A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677772



Internal ID9597191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133429686..133574443hg38UCSC Ensembl
chr10:135243190..135387947hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38144758
hg19144758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181e199
Supporting Variantsessv5719239, essv5400143, essv5996145, essv6032468, essv6172180, essv6496980, essv5801066, essv5868296, essv5592680, essv5475121, essv6353802, essv6156585, essv6224213, essv6436754, essv6315735, essv5511392, essv6021006, essv6258366, essv5459873, essv6419107, essv5791543, essv5848228, essv6315827, essv5516728, essv5813660, essv6316231, essv5795409, essv6590012, essv6063288, essv6297244, essv6424814, essv5788970, essv6480549, essv5870223, essv5431305, essv5777195, essv5675932, essv5842396, essv5958391, essv5928205, essv5963764, essv6393945, essv5528950, essv6505486, essv6457828, essv6371674, essv6449861, essv6534256, essv6395132, essv6433251, essv5400075, essv5762923, essv6353325, essv6446850, essv6553748, essv6147149, essv5999302, essv5768530, essv5982244, essv6071214, essv6503905, essv6128730, essv5836401, essv6007113, essv5726276, essv5552050, essv5864894
SamplesNA11830, NA19058, HG01356, HG00231, HG00608, HG00142, NA19066, HG00242, HG00559, HG01188, HG00306, NA19393, NA12058, HG00737, NA18982, NA18923, HG00634, NA18582, NA20540, HG01083, HG00311, NA20539, HG01080, HG01067, HG00120, NA11994, HG00534, NA19471, NA19087, HG01198, HG00159, HG00464, NA20535, NA18613, NA20800, NA19657, NA18538, NA20505, HG00732, NA19455, NA19663, NA19081, HG01149, HG00708, HG01390, HG00324, HG01073, HG00651, HG01197, NA12827, NA19452, HG00463, NA18570, NA18541, HG01204, HG00258, HG00124, NA19652, NA20801, HG00119, NA19434, NA20527, HG01342, NA20528, NA19661, HG00171, NA19063
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677772
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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