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Homo sapiens
(Graphic courtesy of
CBSE)
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The February 2009 human reference sequence (GRCh37) was produced by the
Genome Reference Consortium. For more information about
this assembly, see
GRCh37 in the NCBI Assembly database.
Sample position queries
A genome position can be specified by the accession number of a
sequenced genomic clone, an mRNA or EST or STS marker,
a chromosomal coordinate range, or keywords from
the GenBank description of an mRNA. The following list shows
examples of valid position queries for the human genome.
See the
User's Guide for more information.
Request:
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Genome Browser Response:
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chr7 |
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Displays all of chromosome 7 |
chrUn_gl000212 |
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Displays all of the unplaced contig gl000212 |
20p13 |
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Displays region for band p13 on chr 20 |
chr3:1-1000000 |
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Displays first million bases of chr 3, counting from p-arm telomere |
chr3:1000000+2000 |
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Displays a region of chr3 that spans 2000 bases, starting with position 1000000 |
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RH18061;RH80175
15q11;15q13
rs1042522;rs1800370 |
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Displays region between genome landmarks, such as
the STS markers RH18061 and RH80175,
or chromosome bands 15q11 to 15q13,
or SNPs rs1042522 and rs1800370.
This syntax may also be used for other range queries, such
as between uniquely determined ESTs, mRNAs,
refSeqs, etc. |
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D16S3046 |
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Displays region around STS marker D16S3046 from the Genethon/Marshfield maps.
Includes 100,000 bases on each side as well. |
AA205474 |
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Displays region of EST with GenBank accession AA205474 in BRCA1 cancer
gene on chr 17 |
AC008101 |
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Displays region of clone with GenBank accession AC008101 |
AF083811 |
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Displays region of mRNA with GenBank accession number AF083811 |
PRNP |
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Displays region of genome with HUGO Gene Nomenclature Committee identifier PRNP |
NM_017414 |
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Displays the region of genome with RefSeq identifier NM_017414 |
NP_059110 |
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Displays the region of genome with protein accession number NP_059110 |
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pseudogene mRNA |
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Lists transcribed pseudogenes, but not cDNAs |
homeobox caudal |
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Lists mRNAs for caudal homeobox genes |
zinc finger |
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Lists many zinc finger mRNAs |
kruppel zinc finger |
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Lists only kruppel-like zinc fingers |
huntington |
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Lists candidate genes associated with Huntington's disease |
zahler |
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Lists mRNAs deposited by scientist named Zahler |
Evans,J.E. |
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Lists mRNAs deposited by co-author J.E. Evans |
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Use this last format for author queries. Although GenBank
requires the search format Evans JE, internally it uses
the format Evans,J.E.. |
Assembly Details
The GRCh37 build reference
sequence is considered to be "finished", a technical term indicating
that the sequence is highly accurate (with fewer than one error per 10,000
bases) and highly contiguous (with the only remaining gaps corresponding
to regions whose sequence cannot be reliably resolved with current
technology). Future work on the reference sequence will focus on improving
accuracy and reducing gaps in the sequence. Statistics for the GRCh37 build
assembly can be found on the NCBI
Build 37.1 Statistics web page. For a glossary of assembly-related
terms, please see the GRC
Assembly Terminology page.
Note on chrM
Since the release of the UCSC hg19 assembly, the Homo sapiens
mitochondrion sequence (represented as "chrM" in the Genome Browser)
has been replaced in GenBank with the record
NC_012920.
We have not replaced the original sequence,
NC_001807,
in the hg19 Genome Browser. We plan to use the
Revised Cambridge
Reference Sequence (rCRS) in the next human assembly release.
Chromosome naming scheme
In addition to the "regular" chromosomes, the hg19 browser contains
nine haplotype chromosomes and 59 unplaced contigs. If an unplaced contig is
localized to a chromosome, the contig name is appended to the regular chromosome
name, as in chr1_gl000191_random. If the chromosome is unknown, the
contig is represented with the name "chrUn" followed by the contig
identifier, as in chrUn_gl000211. Note that the chrUn contigs are no
longer placed in a single, artificial chromosome as they have been in previous UCSC
assemblies. See the sequences
page for a complete list of hg19 chromosome names.
The nine haplotype chromosomes are:
name | accession | UCSC chr name |
HSCHR6_MHC_APD_CTG1 | GL000250.1 | chr6_apd_hap1 |
HSCHR6_MHC_COX_CTG1 | GL000251.1 | chr6_cox_hap2 |
HSCHR6_MHC_DBB_CTG1 | GL000252.1 | chr6_dbb_hap3 |
HSCHR6_MHC_MANN_CTG1 | GL000253.1 | chr6_mann_hap4 |
HSCHR6_MHC_MCF_CTG1 | GL000254.1 | chr6_mcf_hap5 |
HSCHR6_MHC_QBL_CTG1 | GL000255.1 | chr6_qbl_hap6 |
HSCHR6_MHC_SSTO_CTG1 | GL000256.1 | chr6_ssto_hap7 |
HSCHR4_1_CTG9 | GL000257.1 | chr4_ctg9_hap1 |
HSCHR17_1_CTG5 | GL000258.1 | chr17_ctg5_hap1 |
See the
Wellcome Trust Sanger Institute MHC Haplotype
Project web site for additional information on the
chr6 alternate haplotype assemblies.
The Y chromosome in this assembly contains two pseudoautosomal regions (PARs)
that were taken from the corresponding regions in the X chromosome and are
exact duplicates:
chrY:10001-2649520 and chrY:59034050-59363566
chrX:60001-2699520 and chrX:154931044-155260560
For further information on GRCh37 build see the NCBI
GRCh37 release notes.
Bulk downloads of the sequence and annotation data are available via the Genome Browser
FTP server
or the Downloads
page. We recommend that you use
rsync for downloading
large or multiple files.
The hg19 annotation tracks were generated by UCSC and
collaborators worldwide. See the
Credits
page for a detailed list of the organizations and individuals who contributed
to this release.
Genbank Pipeline Details
For the purposes of the Genbank alignment pipeline, this assembly is considered to be: finished.
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