A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660297



Internal ID9579716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93785902..93786215hg38UCSC Ensembl
chr1:94251458..94251771hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5533720, essv6193101, essv6070367, essv5909319, essv5833434, essv5461599, essv5711544, essv6075392, essv6496527, essv5967225, essv6316566, essv6441574, essv6495175, essv6177495, essv5524670, essv6485904, essv6283356, essv6173745, essv6489737, essv5485883, essv6196881, essv5533075, essv6528700, essv5956268, essv5589907, essv5992092, essv5574905, essv5441130, essv5398403, essv5513086, essv6307035, essv5740591, essv6086337, essv6397694, essv5953604, essv6517151, essv5479795, essv6418060, essv5952312, essv6314581, essv6003234, essv6125345, essv5502872, essv5598171, essv6474707, essv6061010, essv5749777, essv5456148, essv5447895, essv6163787, essv5432377, essv6389234, essv6322971, essv5488318, essv5831422, essv5667311, essv5829817, essv5583825, essv5532795, essv5895957, essv5648634, essv5781108, essv6118909, essv6555487, essv6476585, essv5903121, essv6540572, essv6258167, essv6227524, essv6568243, essv6031752, essv6521209, essv6189176, essv6435238, essv6470939, essv6401624, essv5601191, essv5744638, essv5589177, essv6361654, essv6517345, essv6474502, essv5993687, essv6042055, essv5614979, essv6013989, essv6015725, essv6185821, essv5765758, essv5969382, essv6274690, essv6233833, essv6578652, essv5906506, essv5664947, essv5710340, essv6563515, essv6388908, essv5813939, essv5402824, essv5646138, essv6172468, essv5563789, essv5451210, essv6293677, essv5886943, essv5563115, essv6370891, essv6037625, essv5632053, essv6197539, essv6305474, essv6484712, essv6470408, essv6267875, essv5721651, essv6151591, essv5862129, essv6192206, essv5967029, essv5909557, essv5853252, essv6470205, essv6024082, essv6023314, essv5523747, essv6099912, essv5424130, essv6355831, essv5517875, essv6320688, essv5831408, essv6111419, essv5605784, essv6296448, essv6244321, essv5429033, essv5698762, essv6095413, essv6295316, essv5605293, essv6381718, essv6289096, essv5930823, essv5892629, essv6222807, essv6403597, essv5609642, essv6381445, essv6300432, essv5424450, essv5529562, essv6329308, essv6299455, essv5942932, essv5964471, essv5641847, essv5480273, essv6302456, essv6292590, essv6357769, essv6384497, essv5726587, essv5901037, essv5679178, essv6460618, essv6072686, essv6589544, essv5486155, essv5677812, essv5465456, essv5584376, essv6431515, essv5455325, essv6257478, essv6547066, essv6313918, essv5727218, essv5667999, essv5550829, essv5896503, essv6081181, essv5720879, essv6122733, essv5924011, essv6098779, essv6388840, essv6434274, essv6444337, essv5522358, essv5463293, essv6242640, essv6093970, essv6124936, essv6357169, essv5445461, essv5542104, essv5549830, essv5770815, essv5932134, essv5543057, essv6388511, essv6560782, essv6057882, essv6073627, essv5562534, essv6371091, essv5922143, essv5739400, essv5798208, essv6182059, essv6509490, essv6310821, essv6584052, essv6289257, essv5717540, essv6543680, essv5766618, essv5693115, essv6056330, essv6349444, essv5633775, essv6394802, essv6399206, essv5545646, essv6285687, essv5415424, essv6452302, essv6401879, essv6475659, essv6596285, essv6534169, essv6114598, essv5603239, essv5989852, essv5708387, essv6490292, essv5723854, essv6324117, essv6280234, essv5692948, essv5636260, essv5707425, essv6037117, essv5620708, essv6404152, essv6365962, essv5784136, essv6459760, essv5443300, essv5936134, essv6039378, essv5513330, essv5553989, essv5482758, essv6560985, essv5447056, essv6105277, essv6223647, essv6306601, essv6440557, essv6279520, essv5732721, essv6486642, essv5797111, essv5685067, essv5707421, essv6024351, essv5956270, essv5980218, essv6515612, essv6557274, essv5599710, essv6223644, essv6006556, essv5494753, essv5965082, essv5969417, essv5475202, essv6533609, essv6282261, essv5827682, essv6219873, essv6357087, essv6262383, essv6550595, essv6190493, essv5710735, essv5978137, essv6422125, essv6107366, essv6413449, essv6275180, essv5816679, essv5728087, essv5757257, essv6459157, essv6197574, essv6450857, essv5823782, essv6360216, essv5911378
SamplesNA11881, NA19207, NA18870, NA19248, HG00537, NA18605, NA18520, NA18595, NA19904, NA18951, HG00619, NA18630, NA18871, HG00418, NA12286, NA19081, NA19819, NA18523, NA19114, HG00437, NA11920, NA19209, HG00186, HG00464, NA12347, NA18501, NA19093, HG00565, NA11918, NA19469, NA20346, NA19435, NA18545, NA19319, NA18948, NA19670, HG00657, NA11931, NA19317, NA19359, HG01365, NA12813, NA19453, HG01082, NA19451, NA18972, HG01488, NA18517, HG00428, HG00475, HG00542, NA18608, NA19920, HG00139, NA18489, NA19461, NA19144, NA19210, NA19379, NA18507, NA19834, HG01204, HG00404, NA19651, NA19004, NA19678, HG00557, NA19257, NA19701, NA18488, NA19236, NA19084, NA18505, NA12044, NA18873, NA18943, NA19147, HG01171, NA18596, NA18628, NA19438, NA20586, HG00592, NA19077, NA19762, NA19428, NA11919, NA19383, NA18508, NA18967, NA19054, NA20356, NA19390, HG00421, NA18635, NA19057, NA18536, NA12155, NA18622, NA19443, NA07357, NA20757, NA19722, HG00610, NA18990, HG00692, NA18636, NA19396, NA18856, NA19083, HG00628, NA19397, NA18956, NA19066, NA18959, HG00533, HG00419, NA18976, NA19075, NA20282, HG01253, NA18916, NA18982, NA19663, NA19679, NA19457, NA18634, NA19700, NA19316, NA18539, NA19324, NA19728, NA12751, NA19190, NA19000, NA19213, NA19247, NA19380, HG01111, NA19153, NA19785, HG00108, NA19129, NA19172, NA19189, NA19759, NA19372, NA18633, NA20291, HG00653, NA18572, NA19374, NA20536, NA19375, NA19373, NA19716, NA18968, NA19102, HG00559, NA18522, NA19005, NA20344, HG00260, NA18502, NA19119, HG00560, NA19713, HG01073, NA18558, NA19098, HG01176, HG01356, NA18858, NA18942, NA19347, HG01351, NA19332, NA19720, NA18988, HG00512, HG00534, HG01070, HG00525, NA18562, NA19159, HG01060, NA19382, NA18579, NA19318, NA19711, NA18974, NA18985, NA19789, NA19462, NA19777, NA18619, NA18987, NA10851, NA18582, NA18999, NA20525, NA19921, HG00590, HG00595, NA19376, NA19729, NA20756, HG01095, NA18599, NA18907, NA18567, NA19201, HG00611, HG01334, HG00663, NA12156, NA19116, NA18631, NA19431, NA18544, NA18971, NA19434, NA18602, NA19818, HG01390, NA19452, NA18548, NA11992, NA20810, NA19063, NA19225, NA19327, NA19399, HG00656, NA19160, NA18499, NA19371, NA20543, NA19916, HG01108, NA18611, HG00566, NA19171, NA19346, NA20768, HG01498, HG00690, NA12717, NA20528, NA18532, NA18549, NA18853, NA19204, HG00442, NA18981, NA19350, HG01462, NA18908, NA19079, NA20804, HG00626, NA06994, NA18615, NA19758, HG00476, NA20517, NA19468, HG00702, NA18555, NA19200, NA19007, NA19661, NA19456, HG00136, NA18519, NA19065, NA18980, HG01354, NA19439, HG00312, HG01198, NA19137, NA18964, HG01515, NA19152, NA19445, NA19625, HG01359, NA18861, NA19436, NA19321, HG00344, NA20785, HG01052, NA18561, NA19404, NA20516, NA19401, HG00449, NA18511, NA12340, NA20775
Known GenesBCAR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660297
Frequency
Sample Size1151
Observed Gain0
Observed Loss302
Observed Complex0
Frequencyn/a


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