A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665812



Internal ID9931917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:31620295..31629621hg38UCSC Ensembl
chr15:31912498..31921824hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg389327
hg199327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6388361, essv6384914, essv6166056, essv5466699, essv6108247, essv6092542, essv5776899, essv6446788, essv6186355, essv6200154, essv5927974, essv6411598, essv5979358, essv6327591, essv6192005, essv5847135, essv5787541, essv6036002, essv6563844, essv6143297, essv6543712, essv6297960, essv5560626, essv6208640, essv6444323, essv5625344, essv6289080, essv6016326, essv5876466, essv5592316, essv6530171, essv6412748, essv5547403, essv5569014, essv6050155, essv5604686, essv6410267, essv6444904, essv6479963, essv6284479, essv5856291, essv6237960, essv6208806, essv6300847, essv6275783, essv6272258, essv5904123, essv6557809, essv5987174, essv5829142, essv6321360, essv5489488, essv5496537, essv5450923, essv6059219, essv5743901, essv6034692, essv5483391, essv5649990, essv6090464, essv6215249, essv6402836, essv6230525, essv6229558, essv6208611
SamplesHG00096, HG00608, NA19399, HG01374, HG00315, HG00306, NA18999, NA19359, HG00699, NA19393, NA18606, HG00150, NA18988, NA19374, HG01250, NA19373, NA19076, HG00689, HG00330, NA19088, NA19904, HG01134, HG00683, NA18977, HG00705, NA19445, NA19451, HG00464, HG00313, HG01136, NA18544, HG00282, HG00190, NA19982, HG00500, NA19788, NA18948, NA18534, NA19776, HG00613, NA18553, HG01334, HG00704, NA19469, NA19395, NA19108, NA20276, NA19434, NA07051, NA18943, NA19360, NA19783, HG00418, NA18615, NA19078, NA20348, NA18631, NA20582, NA19223, HG00421, NA18873, NA19661, NA20322, NA18511, HG01516
Known GenesOTUD7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665812
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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