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Human Genome Issue HG-2083

Summary:
Possible misassembly or indel variation in GRCh38 within AC004852.2
Description:
Analysis of GU267658.1, GU267709.1, and GU267796.1 along with alignment of HuRef Chr. 7, suggest there may be ~6,524 bp sequence missing from the reference assembly within component AC004852.2. This may represent variation or an assembly error.
Status:
Resolved (GRC Resolved by Experimental Method)
Type:
Variation
Last updated:
2018-03-29
Affects version:
GRCh38
Fix version:
GRCh39, GRCh38.p12
Resolution:
Fosmid AC210438.2 contains an approximately 6.5kb insertion relative to NC_000007.14 component AC004852.2 and has been added as an ALT to represent this variation.

Patches and alternate loci

Scaffold type:
NOVEL patch to GRCh38
Comment:
In this scaffold, AC210438.2 contains a 6.5kb insertion relative to NC_000007.14 component AC004852.2
Revision history of patches and alts for HG-2083
Assembly Scaffold type Contig name GenBank accession RefSeq accession Region
GRCh38.p12 NOVEL HSCHR7_3_CTG1 KZ559106.1 NW_019805493.1 REGION267

Locations and genomic context

Select a placement below to display it in the Sequence Viewer.
  • (View region: Ensembl | NCBI | UCSC)
  • (View region: Ensembl | NCBI | UCSC)