A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668327



Internal ID9587746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19356682..19356818hg38UCSC Ensembl
chrX:19374800..19374936hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6588646, essv5424462, essv6119920, essv5797294, essv5565251, essv5922897, essv6343795, essv6296991, essv6285204, essv6591700, essv5727249, essv5510669, essv5915253, essv6158272, essv6462480, essv5964626, essv6344215, essv6501691, essv6137697, essv6493367, essv6056959, essv5908508, essv5949863, essv6569227, essv6034191, essv6439073, essv6147453, essv6510467, essv5609254, essv5633965, essv6511189, essv6373661, essv6291795, essv5528059, essv5881867, essv6275963, essv5688323, essv6336535, essv5562596, essv6542114, essv6346897, essv6262924, essv6089786, essv6162301, essv6443751, essv5713776, essv6169370, essv5711688, essv5453066, essv6514239, essv5514124, essv6191865, essv6372311, essv6084167, essv6086655, essv6483319, essv5628938, essv5766794, essv5812390, essv5726045, essv6481415, essv5699333, essv5562838, essv5457016, essv5572140, essv5668629, essv6449154, essv6546219, essv6519992, essv5567661, essv6297200, essv5497812, essv6498714, essv6586029, essv6021505, essv5823755, essv5878522, essv5946501, essv5611041, essv6575575, essv5420393, essv5397587, essv6117826, essv5779297, essv6173538, essv5624844, essv6058999, essv6198973, essv5480752, essv6028345, essv5446913, essv5821947, essv5478876, essv6375378, essv5417353, essv6036694, essv6577702, essv5744197, essv5710753, essv5637409, essv6291593, essv5549246, essv5902183, essv6151462, essv6445677, essv5927684, essv5573530, essv5963802, essv6286546, essv6515463, essv5491207, essv5667840, essv5744027, essv5889473, essv5483002, essv5437559, essv6593136, essv6104773, essv5623416, essv6228982, essv5936185, essv5620907, essv5441447, essv5967801
SamplesNA19394, NA18502, NA19701, NA19397, NA19909, NA19466, NA11829, NA19204, NA18861, NA18508, HG01359, NA19399, HG01052, NA19704, NA11931, NA18917, NA19359, NA19819, NA19393, NA18504, NA19377, HG01461, NA19443, NA19190, NA18870, NA18526, NA18510, NA19396, NA19381, NA19379, NA18519, HG01070, NA18489, NA19448, NA19119, NA20317, NA19131, NA18916, NA19457, NA19313, NA19138, HG00185, NA19130, NA19404, NA18874, NA19137, NA19371, NA19238, NA19385, NA19172, HG00309, NA19901, NA18520, NA19209, NA12828, NA19456, NA19445, NA18908, NA18867, NA19921, NA11993, NA19210, HG01187, NA18934, NA19403, NA18933, NA19391, NA19236, NA18516, NA18579, NA18910, NA18572, NA18537, HG01390, NA19654, NA19114, NA19449, NA18856, NA18912, NA18853, NA19099, NA19257, NA19225, NA18523, NA19160, NA18570, HG01107, NA19436, NA18953, NA19401, NA19375, NA19440, NA19390, NA19108, NA19147, NA19434, NA19473, NA19240, NA19380, NA19144, NA19835, NA19428, NA19324, NA19467, HG01108, NA19360, NA19818, NA19376, NA19398, NA18501, NA19438, NA19223, NA19093, NA19116, NA19711, NA19900, NA18505, NA19129, NA18488, NA19312, NA19463, NA18511, NA18522, NA18562
Known GenesPDHA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668327
Frequency
Sample Size1151
Observed Gain0
Observed Loss124
Observed Complex0
Frequencyn/a


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