A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631132



Internal ID7017945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128077406..128079241hg38UCSC Ensembl
Innerchr12:128077416..128079231hg38UCSC Ensembl
Outerchr12:128077396..128079251hg38UCSC Ensembl
chr12:128561951..128563786hg19UCSC Ensembl
Innerchr12:128561961..128563776hg19UCSC Ensembl
Outerchr12:128561941..128563796hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14629458, essv14629454, essv14629459, essv14629453, essv14629472, essv14629456, essv14629469, essv14629465, essv14629462, essv14629470, essv14629466, essv14629473, essv14629463, essv14629471, essv14629468, essv14629455, essv14629460, essv14629474, essv14629461, essv14629457, essv14629467, essv14629464
SamplesHG03096, HG02890, HG02583, NA19466, HG03241, HG02852, HG03558, HG03126, NA19443, NA19317, NA19982, NA19113, NA18912, HG02586, NA19331, NA19835, NA19143, HG03351, HG01431, HG02855, NA18488, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631132
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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