Genome editions and liftover

Since the first release in 2000, the human reference genome is continuously being worked on. While the most recent major release (GRCh38) dates back to 2013, minor releases (GRCh38.pX) are issued more frequently and can be downloaded from the official NCBI Genome Reference Consortium website.

RELEASE DATE RELEASE NAME UCSC VERSION STATUS
Dec. 2013 Genome Reference Consortium GRCh38 hg38 Available
Feb. 2009 Genome Reference Consortium GRCh37 hg19 Available
Mar. 2006 NCBI Build 36.1 hg18 Available
May 2004 NCBI Build 35 hg17 Available
Jul. 2003 NCBI Build 34 hg16 Available
Apr. 2003 NCBI Build 33 hg15 Archived
Nov. 2002 NCBI Build 31 hg13 Archived
Jun. 2002 NCBI Build 30 hg12 Archived
Apr. 2002 NCBI Build 29 hg11 Archived (data only)
Dec. 2001 NCBI Build 28 hg10 Archived (data only)
Aug. 2001 UCSC-assembled hg8 Archived (data only)
Apr. 2001 UCSC-assembled hg7 Archived (data only)
Dec. 2000 UCSC-assembled hg6 Archived (data only)
Oct. 2000 UCSC-assembled hg5 Archived (data only)
Sep. 2000 UCSC-assembled hg4 Archived (data only)
Jul. 2000 UCSC-assembled hg3 Archived (data only)
Jun. 2000 UCSC-assembled hg2 Archived (data only)
May 2000 UCSC-assembled hg1 Archived (data only)

Even though multiple names can exist for one build (e.g. hg18 and NCBI Build 36.1), both refer to the same assembly and are therefore interchangeable.

New versions of the human reference genome contain updates for genome mapping coordinates. While most changes are minor position corrections, some elements, e.g. single nucleotide polymorphisms (SNP), may be remapped to another chromosome. Both UCSC and NCBI offer tools to convert annotations from one build to another (referred to as liftover) which can be found on their respective websites (or see links below).

Since 2018, our group offers the segment_liftover tool, improving the re-mapping of segmented genome data, and batch processing of liftover tasks in general.


Michael, 2018-07-20