A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676579



Internal ID9942684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2859414..2859563hg38UCSC Ensembl
chr7:2899048..2899197hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5999717, essv6437276, essv6071003, essv6568122, essv6363881, essv6324200, essv5930177, essv5681597, essv6156776, essv6265818, essv6492388, essv5496853, essv5651410, essv6429612, essv5884518, essv5630148, essv6184417, essv6483758, essv6454217, essv5922946, essv5622911, essv6197066, essv6418509, essv6488932, essv6419285, essv6106107, essv5739388, essv6493049, essv5753337, essv5505580, essv5435485, essv5908374, essv6338813, essv5986154, essv6179976, essv6334373, essv5524244, essv6442215, essv5951449, essv6558911, essv6270057, essv6379192, essv6531121, essv6533382, essv5529394, essv6434664, essv5650854, essv6150743, essv5870386, essv6079342, essv5758512, essv5891096, essv5891830, essv5638457, essv6533735, essv6009494, essv5476957, essv6452719, essv6085701, essv6419082, essv6419625, essv6384381, essv6463002, essv6410674, essv5462487, essv5951778, essv6351982, essv5474918, essv6563171, essv6309704, essv5768438, essv5985385, essv6575591, essv6583899, essv5668401, essv6378625, essv6503775, essv6536094, essv5877070, essv5899898, essv5925592, essv5738925, essv6234792, essv5917168, essv5757176, essv6047727, essv6234109, essv5856302, essv5461164, essv6101769, essv6273318, essv5939488, essv5763407, essv5752136, essv6020382, essv6295139, essv5719466, essv5757791, essv6069985, essv6293069, essv6110607, essv6329396, essv6168028, essv6244517, essv6045878, essv6403743, essv5974674, essv5727418, essv5588954, essv5798322, essv6183050, essv5871512, essv6371699, essv6390374, essv5895065, essv6207118, essv5571219, essv5631921, essv6473381, essv5396980, essv6198965, essv6533168, essv6082350, essv5410739, essv5612231, essv6377690, essv5681340, essv6124781, essv5466607, essv5698810, essv5538469, essv6148334, essv5907887, essv6195045, essv6160421, essv6400622, essv5732539, essv6328884, essv6422265, essv5704103, essv6401636, essv6207035, essv5611132, essv6565611, essv5969493, essv5432417, essv5432043, essv6281233, essv5499407, essv6273301, essv6476389, essv6214239, essv5426442, essv6255620, essv6255607, essv6183817, essv6050898, essv6033336, essv5817706, essv5551785, essv6210309, essv5814684, essv6032415, essv5844079, essv5873742, essv5704603, essv6496998, essv6063553, essv5678577, essv5624579, essv5924439, essv6206721, essv6546703, essv5726635, essv6070314, essv5702447, essv5821415, essv5422881, essv5895354, essv6312320, essv6182191, essv5653861, essv6407905, essv6530740, essv6248768, essv5999808, essv6238189, essv6318356, essv5845832, essv5401603, essv5546677, essv6131892, essv6201125, essv6321823, essv5842500, essv6155288, essv6007512, essv6463745, essv5924193, essv6448527, essv5578503, essv5692804, essv6428208, essv6072779, essv5891904, essv5983133, essv6031226, essv6193260, essv5884220, essv5865004, essv6211640, essv6225690, essv6486565, essv6542049, essv6317673, essv5440017, essv5559872, essv5691121, essv5855255, essv5846632, essv5790372, essv5706994, essv5750768, essv5696658, essv6318212, essv6039317, essv5946643, essv6222029, essv5702878, essv5499103, essv5990085, essv6574062, essv5439135, essv6477768, essv6099725, essv5617071, essv5966003, essv6427800, essv6045407, essv6556107, essv6132909, essv6408471, essv5813831, essv6022092, essv5748116, essv6545205, essv6340901, essv6420177, essv5752442, essv5470995, essv5545100, essv6226280, essv6538390, essv6250230, essv5615277, essv6481062, essv6362140, essv5778310, essv6227465, essv6283606, essv6519628, essv5864825, essv5499332, essv6528397, essv6561235, essv5743943, essv5443060, essv6287920, essv5747325, essv5450972, essv5942695, essv6154755, essv6550203, essv5671112, essv6147655, essv5960886, essv5870016, essv6341133, essv5668729, essv6514199, essv5664199, essv5833224, essv6168130, essv5711554, essv6582915, essv5456725, essv5874777, essv5845407, essv6113918, essv5502320, essv6025727, essv6554419, essv5834068, essv6470151, essv6514657, essv6110571, essv6058517, essv6127520
SamplesNA12383, HG00189, HG00442, HG01173, HG00143, HG01462, HG00608, NA18621, NA19066, NA10851, NA18565, HG01066, NA20816, NA18999, HG00233, HG00244, NA19684, NA18959, HG00115, NA18616, HG01518, HG01051, HG00261, NA20771, NA12399, NA18602, HG01522, HG00693, HG00337, HG00271, HG00663, NA18563, HG00138, HG01350, HG00589, HG00272, HG01177, NA18558, NA19062, NA18574, NA07048, NA11918, NA18582, NA18571, HG01083, HG00158, HG00281, NA20759, HG01080, HG00156, HG00325, HG00232, HG00705, NA18557, HG01048, HG01133, HG00326, HG00253, NA19921, HG01124, NA18605, NA19403, HG00245, HG00732, NA20521, HG01095, HG00657, NA19717, HG01498, HG00263, HG00275, NA18579, NA18534, HG00551, NA12234, HG00692, NA19064, NA18548, HG00740, HG01047, HG01102, HG00284, HG00690, NA12829, HG00331, NA19750, HG01101, HG00140, HG01334, NA19761, HG00152, HG00146, HG00704, NA19682, HG01107, NA19012, NA18953, HG01148, NA19729, HG00611, NA18632, HG00336, HG00265, NA19712, NA19434, HG00353, HG01357, HG00098, NA19835, NA20778, NA19679, HG01113, HG00662, HG00418, NA18610, HG01342, HG00339, HG00513, HG00259, NA19716, HG00267, NA19474, NA18636, NA20786, NA11843, NA18983, HG00595, HG01111, HG00171, NA12890, NA12006, NA19063, NA19065, NA18612, NA20754, NA19074, HG01437, HG00581, NA19676, HG00626, HG01060, HG00114, NA11830, NA19700, HG00592, HG01098, NA19055, HG00536, NA19397, HG00249, NA18592, HG01052, HG00187, NA20531, HG01389, HG00306, NA18603, HG00367, HG00699, HG00103, NA19777, NA19057, NA18606, NA18526, NA12400, NA12155, NA07357, NA12341, HG00327, NA19068, NA19746, NA19396, NA19076, NA20796, NA19005, HG01070, HG00251, NA19728, HG00702, NA19723, HG00634, HG00610, HG00346, NA19771, NA12287, HG00247, NA19138, HG00369, HG00590, NA18611, NA12282, HG00120, NA19383, HG00683, HG00106, NA06984, HG01495, HG00262, NA19719, HG01072, HG00422, HG01176, NA12889, HG00309, HG00182, NA19901, HG00338, HG00159, NA18973, NA18638, NA12748, HG00108, HG00260, NA19007, NA11831, HG01353, HG00313, HG00188, HG00149, NA18544, NA18613, HG00629, NA19657, HG00183, NA19082, HG00596, NA20524, HG01384, HG00328, NA12342, HG00428, HG00190, HG00653, HG00701, HG01515, HG00533, NA18637, NA19788, NA20506, NA20126, NA20770, HG00619, NA19776, HG00708, NA18566, HG01073, HG00273, NA19000, HG01197, NA20538, NA12249, HG00321, NA18853, HG00276, NA19756, HG00141, NA20542, HG01204, NA20522, NA20801, HG00285, NA19834, NA18543, NA18559, NA19749, HG00565, HG00136, NA19773, HG01494, NA19786, HG00256, NA06986, HG00269, HG00125, NA19376, HG00672, HG00111, HG00578, HG01491, HG00312, HG00421, HG00329, NA18987, HG00123, NA12830, HG00131, HG01251, HG00372, HG00252, HG00472, NA19755, HG01082, HG00345, NA07000, HG01097, NA18549, HG01191, NA18622
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676579
Frequency
Sample Size1151
Observed Gain0
Observed Loss298
Observed Complex0
Frequencyn/a


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