A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674115



Internal ID9940220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63559498..63559729hg38UCSC Ensembl
Outerchr20:63559461..63559779hg38UCSC Ensembl
Innerchr20:62190851..62191082hg19UCSC Ensembl
Outerchr20:62190814..62191132hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5813224, essv5864950, essv6578531, essv6053635, essv5965787, essv5616173, essv6308933, essv6496174, essv6117169, essv5485218, essv6543804, essv5415031, essv5458157, essv5887136, essv6022688, essv6552892, essv5839311, essv6506913, essv6248619, essv5537148, essv5760839, essv5822788, essv5489846, essv5456922, essv6195204, essv5740337, essv5611119, essv6300810, essv6341052, essv6248735, essv6156432, essv5994355, essv5539229, essv6233150, essv6247778, essv5784420, essv5725450, essv5668661, essv6079697, essv5686261, essv6222293, essv5986111, essv5704429, essv6102414, essv5706354, essv5664345, essv5987522, essv5499741, essv6483821, essv5574674, essv6136337, essv6117264, essv6462733, essv6060178, essv5412405, essv6428527, essv5891818, essv6186920, essv6560358, essv6325340, essv5692578, essv5670059, essv5523617, essv6521655, essv6489508, essv5816719, essv6308746, essv6008122, essv6241332, essv6499348, essv6531515, essv6291590, essv6582707, essv6311912, essv6056571, essv6580585, essv6095375, essv5449157, essv6136892, essv5484210, essv6433132, essv5516232, essv6355357, essv6208282, essv6020581, essv6550806, essv5591267, essv6019331, essv6223390, essv5767046, essv5773422, essv5697157, essv6544437, essv6287824, essv6087760, essv5484522, essv5561361, essv5791106, essv5778499, essv5600896, essv6585117, essv6093861, essv5659390, essv6042986, essv6087311, essv6241347, essv6289953, essv5892099, essv5530028, essv5978020, essv5526426, essv6097329, essv5704788, essv6447187, essv6256587, essv5823102, essv6121093, essv5855912, essv6414383, essv5645703, essv6340189, essv6549906, essv5943738, essv6024108, essv5661885, essv5750483, essv6554380, essv5914148, essv5485897, essv6317288, essv5814018, essv6369136, essv5881571, essv5593566, essv5770590, essv5446343, essv5792019, essv5809809, essv6114339, essv5934465, essv5482533, essv5877899, essv5845371, essv5945726, essv5573679, essv6576910, essv5534799, essv5408914, essv5993959, essv6550818, essv5461321, essv5532793, essv5898133, essv5492789, essv5834812, essv6543195, essv6579933, essv5747963, essv6188522
SamplesHG00626, HG01060, HG01441, HG00650, HG00542, NA19700, NA19703, HG00536, NA18621, HG00671, HG01188, HG01389, HG01374, HG01066, NA18603, HG00699, NA19819, NA20332, NA18530, NA18606, HG00654, HG01051, NA18633, NA18602, HG00693, HG00337, HG00327, HG00663, HG00138, NA19076, HG01350, NA18550, HG01366, HG01070, HG00589, HG00251, HG00501, NA18597, NA18489, HG01351, HG00702, HG00448, NA18635, NA18567, NA18619, NA18547, HG00590, NA18611, HG00512, HG00281, HG00277, HG01069, HG00683, HG00335, NA18977, HG01072, HG00232, HG00534, HG00422, HG00705, NA19087, HG01440, HG00309, HG00427, NA18557, HG00326, HG00323, HG00419, HG00253, HG00108, HG00260, NA19007, HG00543, HG00313, HG01183, NA18605, NA18613, NA19657, HG00443, HG00282, HG00557, HG00328, HG00653, NA20521, HG00475, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, NA18637, HG00500, HG00275, HG00708, NA18548, HG00740, NA18566, HG00324, HG00273, HG00651, HG00373, HG00479, HG00331, HG00684, HG01101, HG00613, HG00525, HG00321, HG00140, HG01334, HG00276, HG00704, HG00463, NA18536, HG00246, NA18593, NA12546, HG01107, HG01075, NA18632, HG00124, HG00285, HG00353, HG00580, NA12046, HG01375, HG00473, HG00607, HG00237, HG00319, HG01108, HG00662, HG00418, HG00620, HG00707, HG00614, HG00513, HG00478, HG00259, HG01055, HG00310, HG00343, HG00252, HG00472, NA18989, HG01082, HG00628, NA18624, NA18623, NA07000, NA18612, NA18549, NA18622, HG01061, HG00437, NA18562, HG00581
Known GenesHELZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674115
Frequency
Sample Size1151
Observed Gain0
Observed Loss159
Observed Complex0
Frequencyn/a


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