A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629790



Internal ID7016611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65575754..65584811hg38UCSC Ensembl
Innerchr12:65576254..65584311hg38UCSC Ensembl
Outerchr12:65574754..65585811hg38UCSC Ensembl
chr12:65969534..65978591hg19UCSC Ensembl
Innerchr12:65970034..65978091hg19UCSC Ensembl
Outerchr12:65968534..65979591hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg389058
hg199058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14515174, essv14515176, essv14515166, essv14515169, essv14515177, essv14515179, essv14515171, essv14515165, essv14515175, essv14515170, essv14515164, essv14515168, essv14515167, essv14515180, essv14515178, essv14515172, essv14515173
SamplesNA19394, NA18861, NA18508, HG03455, HG03436, HG03091, HG03224, HG02505, NA19137, HG02427, HG03583, NA19200, NA18933, HG02445, HG02675, NA18542, HG02546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629790
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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