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Human Genome Issue HG-2494

Summary:
GRCh38 represents rare allele in COL3A1 (rs1516446)
Description:
The GRCh38 NC_000002.12 nt 189,010,695 (dbSNP: rs1516446) is observed with global MAF=0.0034 in the 1000G Phase 3 May 2013 call set.
Status:
Resolved (GRC Resolved by Electronic Means)
Type:
Variation
Last updated:
2019-06-10
Affects version:
GRCh38
Fix version:
GRCh39, GRCh38.p14
Resolution:
LJII02000005.1 has been uploaded to both the Chromosome 2 Primary TPF and the Chromosome 2 PATCHES TPF.

Patches and alternate loci

No patches or alts are associated with HG-2494.

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)