A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664480



Internal ID9583899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179214140..179214290hg38UCSC Ensembl
chr5:178641141..178641291hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5793775, essv6556337, essv6039900, essv6466042, essv5872936, essv5530794, essv6290037, essv6462426, essv6249471, essv5962899, essv6451640, essv6196296, essv5566366, essv5816703, essv5483388, essv6116903, essv6197069, essv5957330, essv6541460, essv5479716, essv6206566, essv5739118, essv6168464, essv6384686, essv5862114, essv6313639, essv5661626, essv6446769, essv6500348, essv5547932, essv5805943, essv5864623, essv6387463, essv5592807, essv5615265, essv6005142, essv6418167, essv6246350, essv5991511, essv5972688, essv5508425, essv6230319, essv5789142, essv5623696, essv6397796, essv5715443, essv5672008, essv5757294, essv5840024, essv6263219, essv6259040, essv5607050, essv6335210, essv5456394, essv6559512, essv6102208, essv6456752, essv6170466, essv6418423, essv6494290, essv6002701, essv5440702, essv5512627, essv6016963, essv6237278, essv5496527, essv5538279, essv6018269, essv6038001, essv5871157, essv5534073, essv6245325, essv6010455, essv5701352, essv6489174, essv6023486, essv6113990, essv5886610, essv6056484, essv5810662, essv5940820, essv6479744, essv6498009, essv6329869, essv5676788, essv6345170, essv5504334, essv6042756, essv5676094, essv5995025, essv6428724, essv5970983, essv6277498, essv6121751, essv6276338, essv5462774, essv5940135, essv6040216, essv6048350, essv6183495, essv5808127, essv6317806, essv6102543, essv6582937, essv5719381, essv5888588, essv6303128, essv6253595, essv6083375, essv6032426, essv5873559, essv5889322, essv5486719, essv5450199, essv6317988, essv6529342, essv5828462, essv6275761, essv5487844, essv5404355, essv5467787, essv6563783, essv6074155, essv5870754
SamplesNA12827, HG00309, HG01515, NA12154, HG00537, NA19436, HG00257, NA11930, NA07037, NA20522, NA20527, HG00344, HG01072, NA18933, NA19404, HG00500, HG01173, HG01083, NA20531, NA19072, HG00261, HG01079, NA18603, HG00463, HG00657, HG01492, NA20800, HG01082, HG01488, NA20529, HG00375, HG01188, HG00334, NA07051, NA20798, HG00319, HG00253, NA12044, NA18949, HG00256, HG00543, HG00154, HG01107, HG00158, NA19428, NA11919, NA12763, HG00346, NA12282, HG00472, HG01375, NA12004, HG00337, NA18635, HG00140, NA20504, HG01048, HG01061, HG00689, NA19396, NA19397, HG00315, HG00330, NA12761, HG00533, HG00419, HG00125, NA12829, HG00254, HG01187, HG00237, HG00343, NA12144, NA19190, NA12006, HG00373, HG01437, HG00108, NA19372, NA19703, NA19373, HG01073, NA18558, HG00239, HG00273, HG00232, HG00478, HG00740, HG00329, HG00246, NA12283, NA18562, NA19328, HG01060, HG00236, NA18543, NA10851, NA18909, NA19391, NA19394, HG00138, NA18602, NA20507, NA20513, NA12003, NA12842, HG01366, HG00422, HG00708, HG01251, HG00324, NA18532, NA18853, HG00626, HG01377, HG00143, NA20502, HG00671, HG00345, HG00702, HG00271, NA20519, NA07000, HG00327
Known GenesADAMTS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664480
Frequency
Sample Size1151
Observed Gain0
Observed Loss124
Observed Complex0
Frequencyn/a


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