A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630034



Internal ID7016854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76721507..76724403hg38UCSC Ensembl
Innerchr12:76721524..76724386hg38UCSC Ensembl
Outerchr12:76721490..76724420hg38UCSC Ensembl
chr12:77115287..77118183hg19UCSC Ensembl
Innerchr12:77115304..77118166hg19UCSC Ensembl
Outerchr12:77115270..77118200hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14540178, essv14540175, essv14540176, essv14540179, essv14540189, essv14540167, essv14540181, essv14540177, essv14540184, essv14540182, essv14540174, essv14540166, essv14540171, essv14540183, essv14540190, essv14540172, essv14540168, essv14540187, essv14540170, essv14540191, essv14540192, essv14540180, essv14540173, essv14540185, essv14540169, essv14540188, essv14540186
SamplesNA19332, HG03111, NA18877, HG03280, NA18510, NA19107, HG03199, NA19201, HG03091, NA19198, HG02981, NA19235, NA19152, HG02878, HG03301, NA18499, NA19095, HG03028, HG03437, HG03367, HG02010, NA19818, NA19323, HG02629, HG03129, HG03265, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630034
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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