A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661421



Internal ID9927526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128711458..128713936hg38UCSC Ensembl
chr3:128430301..128432779hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6175399, essv6372312, essv5951287, essv5918498, essv6192951, essv5890879, essv5792319, essv6139359, essv6410243, essv5541917, essv5802777, essv5849196, essv5484974, essv5827880, essv5573046, essv5815963, essv5400862, essv5833819, essv6015774, essv6494566, essv6148435, essv6307041, essv5634592, essv6048845, essv5907736, essv5526374, essv5990374, essv5736404, essv5901724, essv6416238, essv6373656, essv5695956, essv6362395, essv5457369, essv6185687, essv6265552, essv5903318, essv5719600, essv6354103, essv6025996, essv6275431, essv5532682, essv5605008
SamplesHG00403, NA19701, NA20543, NA11933, HG01518, HG01461, HG00327, NA19198, NA18571, HG00369, HG01069, NA18868, HG00309, NA19722, NA18990, NA18557, NA18539, HG01124, NA18613, NA19657, HG00183, NA19717, HG00556, NA18637, HG01390, NA19654, HG01102, HG00404, NA19682, NA19625, NA18546, NA19729, NA19256, HG00565, HG00375, NA19783, NA19785, NA19779, NA12830, NA18609, NA19758, NA19312, NA18612
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661421
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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