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Human Genome Issue HG-2185

Summary:
Possible misassembly or indel variation in GRCh38 within AC006057.5
Description:
Analysis of GU267156.1 along with alignment of HuRef Chr. 12, suggest there may be ~ 1,760 bp sequence missing from the reference assembly within component AC006057.5. This may represent variation or an assembly error. GRCh38 coordinates are NC_000012.12:6,305,421
Status:
Resolved (GRC Resolved- No Change)
Type:
Variation
Last updated:
2017-12-28
Affects version:
GRCh38
Fix version:
GRCh39
Resolution:
RPCI-11 whole genome sequence reads (SRA accession SRR834589) align across this region, suggesting a valid deletion allele in the Reference Assembly. This variation is under 5kb and does not meet the criteria for alternate locus representation.

Patches and alternate loci

No patches or alts are associated with HG-2185.

Locations and genomic context

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