A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667978



Internal ID9934083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70903139..70904080hg38UCSC Ensembl
chrX:70122989..70123930hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5868843, essv5451448, essv6588289, essv5721921, essv5804563, essv6560089, essv6328208, essv5994278, essv5634311, essv6146332, essv6274106, essv5405049, essv6049942, essv5846134, essv5488805, essv6596151, essv6488131, essv5960154, essv5828087, essv5720300, essv6101456, essv5794234, essv6370414, essv6188057, essv6450507, essv5698530, essv5527342, essv6479825, essv5740239, essv6103827, essv5915631, essv6195536, essv5497842, essv5728004, essv5897537, essv5862301, essv5723845, essv5525915, essv5833447, essv5801678, essv5698724, essv5947688, essv6464989, essv5650802, essv5425844, essv6294773, essv5734319, essv5873476, essv5546462, essv5967358, essv6399041, essv6447819, essv6276414, essv6315120, essv6505680, essv5756224, essv6438054, essv5811655, essv5808233, essv6456496, essv5990037, essv6077885, essv5701353, essv6415310, essv6460795, essv6310507, essv5822910, essv5498642, essv6267947, essv5862511
SamplesHG00626, NA19058, NA18621, NA11829, NA18861, NA18561, NA18999, NA18486, HG00699, NA19819, HG00737, NA18967, NA18563, NA18940, NA18550, HG00589, NA19197, NA18571, NA19130, NA18949, HG00106, NA18617, NA19456, HG00530, NA20800, NA18934, HG00653, NA18991, NA18637, NA18871, NA18572, NA18948, NA18534, NA19776, HG00635, NA18548, NA18537, HG00651, NA19084, NA18626, HG00690, HG00404, HG01383, NA18532, HG00525, HG00704, NA18634, NA18945, NA18608, NA19003, NA18533, NA19147, NA19435, HG00473, NA19467, HG00418, NA18615, HG00620, NA19078, HG00614, HG00578, NA18631, NA19060, NA19093, HG00472, NA18989, NA18505, HG01111, NA19065, HG00581
Known GenesTEX11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667978
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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