A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629610



Internal ID7016431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57353111..57355195hg38UCSC Ensembl
Innerchr12:57353261..57355045hg38UCSC Ensembl
Outerchr12:57352961..57355345hg38UCSC Ensembl
chr12:57746894..57748978hg19UCSC Ensembl
Innerchr12:57747044..57748828hg19UCSC Ensembl
Outerchr12:57746744..57749128hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382085
hg192085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486796, essv14486806, essv14486794, essv14486807, essv14486798, essv14486800, essv14486792, essv14486804, essv14486795, essv14486791, essv14486799, essv14486803, essv14486793, essv14486797, essv14486801, essv14486805, essv14486802
SamplesNA21110, NA20853, HG03228, HG04222, HG03687, HG03911, NA21109, HG03947, HG04238, NA21098, NA21112, HG04152, HG04118, HG03702, NA20849, HG04171, NA21091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629610
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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