A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630972



Internal ID6671105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122255865..122260421hg38UCSC Ensembl
Innerchr12:122256015..122260271hg38UCSC Ensembl
Outerchr12:122255715..122260571hg38UCSC Ensembl
chr12:122740412..122744968hg19UCSC Ensembl
Innerchr12:122740562..122744818hg19UCSC Ensembl
Outerchr12:122740262..122745118hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384557
hg194557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14621403, essv14621406, essv14621399, essv14621402, essv14621397, essv14621405, essv14621398, essv14621404, essv14621401, essv14621396, essv14621400, essv14621395
SamplesHG03484, HG02628, HG02870, HG03460, HG03212, HG02623, HG03394, HG03476, HG02283, NA19095, HG03470, HG02284
Known GenesVPS33A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630972
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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