A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597337



Internal ID6637607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108911912..108913854hg38UCSC Ensembl
Innerchr3:108911961..108913805hg38UCSC Ensembl
Outerchr3:108911863..108913903hg38UCSC Ensembl
chr3:108630759..108632701hg19UCSC Ensembl
Innerchr3:108630808..108632652hg19UCSC Ensembl
Outerchr3:108630710..108632750hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381943
hg191943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11097390, essv11097392, essv11097389, essv11097398, essv11097394, essv11097388, essv11097402, essv11097395, essv11097400, essv11097397, essv11097387, essv11097401, essv11097386, essv11097399, essv11097391, essv11097393, essv11097396
SamplesHG00364, HG01676, NA20317, HG03342, HG01673, NA20318, NA19921, NA11831, NA18934, NA19184, HG02221, HG01770, HG01617, NA19312, NA20585, HG01509, NA21091
Known GenesGUCA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597337
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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