A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657032



Internal ID9576451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128915791..128915990hg38UCSC Ensembl
chr11:128785686..128785885hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38200
hg19200
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657032
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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