Schema for Haplotypes - GRCh38 Haplotype to Reference Sequence Mapping Correspondence
  Database: hg38    Primary Table: altLocations    Row Count: 522
Format description: Browser extensible data
fieldexampleSQL type info description
bin 75smallint(5) unsigned range Indexing field to speed chromosome range queries.
chrom chr1varchar(255) values Reference sequence chromosome or scaffold
chromStart 2448810int(10) unsigned range Start position in chromosome
chromEnd 2791270int(10) unsigned range End position in chromosome
name chr1_KI270762v1_altvarchar(255) values Name of item

Sample Rows
 
binchromchromStartchromEndname
75chr124488102791270chr1_KI270762v1_alt
85chr11307511213312803chr1_KI270766v1_alt
12chr13035219030456601chr1_KI270760v1_alt
210chr1144488705144674781chr1_KI270765v1_alt
219chr1153700530153865738chr1_GL383518v1_alt
1769chr1155210381155305245chr1_GL383519v1_alt
262chr1198370082198725175chr1_GL383520v2_alt
2371chr1234163456234211370chr1_KI270764v1_alt
4chr1242987892243895211chr1_KI270763v1_alt
38chr1245305696245727576chr1_KI270759v1_alt

Note: all start coordinates in our database are 0-based, not 1-based. See explanation here.

Haplotypes (altLocations) Track Description
 

Description

This track shows the locations of the alternate sequences and haplotypes defined by the Genome Reference Consortium (GRC) on the GRCh38 (hg38) reference sequence. The GRC generates multiple representations (haplotypes/alternate loci) for regions that are too complex to be represented by a single path.

Alt Map

The Alt Map track shows a PSL alignment of the data in the NCBI alternate sequence/haplotype mapping files to the reference sequence, allowing a side-by-side comparison of the two. Alignments are displayed in black and indicate gaps and insertions in the query and target sequences, depending on the track configuration settings. For information on interpreting the alignment display, see the reference pages on display conventions for PSL alignment tracks and alignment insertion/deletion display options.

Haplotypes

Items in the Haplotype track, displayed in blue, show locations on the reference genome that correspond to the alternate sequence/haplotype regions. Click on an item to display a link to the corresponding position in the alternate sequence/haplotype (from the reference sequence) or to the corresponding reference sequence location (from the alternate sequence/haplotype).

Methods

The locations of the alternate sequence/haplotypes, which have been established by NCBI, are specified in the ALT_REF_LOCI_*/alt_scaffolds/alignments/*.gff files in the GRCh38 GenBank directory. The GRC used the NCBI Genomic Aligner (NG Aligner) to align the alternate loci specifically to the primary chromosomes on which their anchor sequence is found.

The NCBI GFF/cigar annotation files were converted to PSL format with the kent command line program, gff3ToPsl.

References

For general information about the genome assembly process, see the overview of genome assembly procedures on the NCBI website. NCBI also provides specific information about the hg38 assembly.