A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596073



Internal ID6636347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46936296..47131646hg38UCSC Ensembl
Innerchr3:46936796..47131146hg38UCSC Ensembl
Outerchr3:46935296..47132646hg38UCSC Ensembl
chr3:46977786..47173136hg19UCSC Ensembl
Innerchr3:46978286..47172636hg19UCSC Ensembl
Outerchr3:46976786..47174136hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38195351
hg19195351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11000944
SamplesNA07051
Known GenesCCDC12, NBEAL2, NRADDP, SETD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596073
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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