A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598647



Internal ID6985783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171324001..171325723hg38UCSC Ensembl
Innerchr3:171324001..171325723hg38UCSC Ensembl
Outerchr3:171323769..171325999hg38UCSC Ensembl
chr3:171041790..171043512hg19UCSC Ensembl
Innerchr3:171041790..171043512hg19UCSC Ensembl
Outerchr3:171041558..171043788hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11225506, essv11225505, essv11225498, essv11225504, essv11225500, essv11225503, essv11225497, essv11225507, essv11225501, essv11225508, essv11225499, essv11225502, essv11225509
SamplesNA20766, HG01438, NA20805, HG01513, HG00356, HG01077, HG00117, HG01936, NA20542, HG01939, HG00174, NA20763, HG01061
Known GenesTNIK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598647
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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