A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595022



Internal ID6635297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2263791..2270786hg38UCSC Ensembl
Innerchr3:2263791..2270786hg38UCSC Ensembl
Outerchr3:2263448..2271050hg38UCSC Ensembl
chr3:2305475..2312470hg19UCSC Ensembl
Innerchr3:2305475..2312470hg19UCSC Ensembl
Outerchr3:2305132..2312734hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386996
hg196996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899512, essv10899513, essv10899515, essv10899514
SamplesHG01085, NA12058, HG00276, NA20812
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595022
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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