Human Genome Issue HG-2118

Summary:

Possible misassembly or indel variation in GRCh38 within AC087741.18

Description:

Analysis of GU267643.1 along with alignment of HuRef Chr. 17, suggest there may be ~1,795 bp sequence missing from the reference assembly within component AC087741.18. This may represent variation or an assembly error.

Status:

Resolved (GRC Resolved by Electronic Means)

Type:

Clone Problem

Last updated:

2022-02-18

Affects version:

GRCh38

Fix version:

GRCh39, GRCh38.p14

Resolution:

HuRef WGS contig ABBA01015411.1 patches an approximately 1.8kb deletion in CM000679.2/NC_000017.11 component AC087741.18.

Patches and alternate loci

Scaffold type:

FIX patch to GRCh38

Comment:

This sequence will be incorporated into the reference assembly in the next major assembly release. At that time, the accession number for this patch will be made secondary to the reference chromosome accession. In this scaffold, HuRef WGS contig ABBA01015411.1 corrects an approximately 1.8kb deletion in CM000679.2/NC_000017.11 component AC087741.18.

Locations and genomic context

• GRCh38.p14 chr17:80,071,189-80,210,172 (View region: Ensembl | NCBI | UCSC)
• GRCh38.p14 chr17|NW_025791802.1:94,100-234,878
• GRCh37.p13 chr17:78,044,988-78,183,971 (View region: Ensembl | NCBI | UCSC)