A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2657032

Internal ID9576451
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128915791..128915990hg38UCSC Ensembl
chr11:128785686..128785885hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5904715, essv6502551, essv5508495, essv5628107, essv5778489, essv5958902, essv5666097, essv6144889, essv6542782, essv6128365, essv5471517, essv5742709, essv5950802, essv5876073, essv6556173, essv5662513, essv5500809, essv5690531, essv5703306, essv5844331, essv6397974, essv6229986, essv5840876, essv6013244, essv5581134, essv6070085, essv5400048, essv5625307, essv5694580, essv6024177, essv6545876, essv6115649, essv6289447, essv6534733, essv6163140, essv5657369, essv6134906, essv6238328, essv6022719, essv5980878, essv5457086, essv6202528, essv5413109, essv6162051, essv6318060, essv6334900, essv5836158, essv6460713, essv5659090, essv5926147, essv5699375, essv5600464, essv6100693, essv6148483, essv5889521, essv6559541, essv6388267, essv5411469, essv6551560, essv5461158, essv6286266, essv5579990, essv5427323, essv6459256, essv5544630, essv6196376, essv6205090, essv6122084, essv6135268
SamplesHG01441, NA18621, NA18964, HG00536, HG01440, HG00705, HG00274, HG00596, HG01365, HG00428, HG00475, HG01350, HG00701, HG00683, HG00698, HG00699, NA18950, NA18596, HG00543, NA18559, HG00556, NA19085, NA18624, NA18566, NA19057, NA18536, NA18960, NA18636, NA18592, NA18956, NA19066, HG00533, NA18637, NA18593, HG01187, HG00436, HG00620, HG01191, HG01356, HG00478, NA18564, HG01080, NA19720, HG00512, HG00534, NA18562, NA18579, NA18606, HG00590, NA19729, NA18983, HG00443, HG00650, NA18544, NA18533, NA18548, HG00422, HG00708, NA18610, HG00442, HG01374, HG01102, HG00684, HG01377, HG00671, NA19087, HG00704, NA18555, HG00327
Known GenesKCNJ5
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2657032
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0

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