A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630033



Internal ID7016853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76711704..76717010hg38UCSC Ensembl
Innerchr12:76711704..76717010hg38UCSC Ensembl
Outerchr12:76711204..76717510hg38UCSC Ensembl
chr12:77105484..77110790hg19UCSC Ensembl
Innerchr12:77105484..77110790hg19UCSC Ensembl
Outerchr12:77104984..77111290hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg385307
hg195307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14540164, essv14540165
SamplesNA20544, HG01617
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630033
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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