A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594795



Internal ID6982115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240267026..240271317hg38UCSC Ensembl
Innerchr2:240267027..240271317hg38UCSC Ensembl
Outerchr2:240267026..240271318hg38UCSC Ensembl
chr2:241206443..241210734hg19UCSC Ensembl
Innerchr2:241206444..241210734hg19UCSC Ensembl
Outerchr2:241206443..241210735hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384292
hg194292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10890713, essv10890724, essv10890714, essv10890715, essv10890705, essv10890720, essv10890718, essv10890728, essv10890723, essv10890730, essv10890727, essv10890716, essv10890707, essv10890708, essv10890709, essv10890717, essv10890725, essv10890731, essv10890721, essv10890706, essv10890722, essv10890726, essv10890710, essv10890729, essv10890719, essv10890712, essv10890711
SamplesHG02702, NA20356, NA18519, HG03452, HG02840, HG02860, HG02505, HG03189, HG02461, NA20355, HG03169, HG03291, HG02470, HG01889, NA18907, NA18856, NA19099, HG02979, HG02332, NA19206, HG02501, HG02314, NA19818, HG03025, HG03049, HG03162, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594795
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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