Human (Homo sapiens)

Assembly

This site provides a data set based on the February 2009 Homo sapiens high coverage assembly from the Genome Reference Consortium. The data set consists of gene models built from the genewise alignments of the human proteome as well as from alignments of human cDNAs using the cDNA2genome model of exonerate.

This release of the assembly has the following properties:

• 27478 contigs.
• contig length total 3.2 Gb.
• chromosome length total 3.1 Gb.

It also includes nine haplotypic regions, mainly in the MHC region of chromosome 6.

As the GRC maintains and improves the assembly, patches have been introduced. In Ensembl release 59, the patches in patch release one from the GRC have been added to the assembly. Currently, assembly patches are of two types:

• Novel patch: new sequences that add alternative sequence at a loci and will remain as haplotypes in the next major assembly release by GRC
• Fix patch: sequences that correct the reference sequence and will replace the given region of the reference assembly at the next major assembly release by GRC

Annotation

In release 59 (August 2010), we continue to display a joint gene set based on the merge between the automatic annotation from Ensembl and the manually curated annotation from Havana. This refined gene set corresponds to GENCODE release 4.The Consensus Coding Sequence (CCDS) identifiers have also been mapped to the annotations. More information about the CCDS project is available here.

In addition, the mitochondrial (MT) sequence has been replaced by the correct MT sequence, NC_012920.

Additional manual annotation of this genome can be found in Vega