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Human Genome Issue HG-2477

Summary:
Possible misassembly or indel variation in GRCh38 within AC084877.18
Description:
Analysis of JTFH01000293.1 and JTFH01001738.1 along with alignment of CHM1 Whole Genome assembly (GCA_001297185.1), suggest there is ~13,485bp sequence missing from the Reference assembly within component AC084877.18 at NC_000012.12: 70,945,268. Analysis of GRCh38-HuRef assembly-assembly alignments indicates that HuRef supports the Reference suggesting that the indel is sequence variation.
Status:
Resolved (GRC Resolved- No Change)
Type:
Variation
Last updated:
2020-02-04
Affects version:
GRCh38
Fix version:
GRCh39
Resolution:
RepeatMasker identifies this ~13kb insert as 'satellite' repeat so we will not add this sequence as an ALT_LOCI at this time.

Patches and alternate loci

No patches or alts are associated with HG-2477.

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)