A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673796



Internal ID9593215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:919619..920425hg38UCSC Ensembl
chr12:1028785..1029591hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5595050, essv6380131, essv5936103, essv6514452, essv5684031, essv5870575, essv6238743, essv6551132, essv5754581, essv6547407, essv5590477, essv5500082, essv5982886, essv5458838, essv5868789, essv6395755, essv6135681, essv5701998, essv6440059, essv5929233, essv6284887, essv5878969, essv5892762, essv6111720, essv5524721, essv5985971, essv5847378, essv5958154, essv5475366, essv5568636, essv6074535, essv6351281, essv6149306, essv6444165, essv6260359, essv6033480, essv6531235, essv6034648, essv5770042, essv5483188, essv6424926, essv6100589, essv5922854, essv5985205, essv5733881, essv5668267, essv5435565, essv5610952, essv6320543, essv6358715, essv6565633, essv5679148, essv6074525, essv5464763, essv6263452, essv5655845, essv5860173, essv6424275, essv6073647, essv5682431, essv5925512, essv5682345, essv5849174, essv6302397, essv6254593, essv6051169, essv6595139, essv6426142, essv6308069, essv6207984, essv6396119, essv6434375, essv5828371, essv6304220, essv6392680, essv6242918, essv5941065, essv5484437, essv5540811, essv6425901, essv6261556, essv6530673, essv5575746, essv6383010, essv5623075, essv6066826, essv5652337, essv6287283, essv6514159, essv5645687, essv6113121, essv6156407, essv6517612, essv5947859, essv5549253, essv5681195, essv5708609, essv6247854, essv6221700, essv6300023, essv5590516, essv5993667, essv5969308, essv6323399, essv5850972, essv6329876, essv5477352, essv5986279, essv6129512, essv5521385, essv6546863, essv5799888, essv5547149, essv5824987, essv5980552, essv5813047, essv6543949, essv5825013, essv5955575, essv6115469, essv6412394, essv6074066, essv5539160, essv6088677, essv5590292, essv6211216, essv6427031, essv5665885, essv6412309, essv5730489, essv6426650, essv5964917, essv6216670, essv6233777, essv6059117, essv5402152, essv6478118, essv5406777, essv5406424, essv5494140, essv5987956, essv6378552, essv5898935, essv5790634, essv6049600, essv6490710, essv5546428, essv5667565, essv5695511, essv5572942, essv5774314, essv6162096, essv6383776, essv6533311, essv5612262, essv5911747, essv5433167, essv6226278, essv5809419, essv5677145, essv5658458, essv5741454, essv5513256, essv5836514, essv6142440, essv5534599, essv5983278, essv5713108, essv6414544, essv5979388, essv6305987, essv6259685, essv5447004, essv6222097, essv6005936, essv5987159, essv6233992, essv5737570, essv6028564, essv6158231, essv5619954, essv5515856, essv6384699, essv6509508, essv5709567, essv5765926, essv6469177, essv5727792, essv5976123, essv5881072, essv6013479, essv6456854, essv6135969, essv5938360, essv5770091, essv5842345, essv6350902, essv6156932, essv5668312, essv5764697, essv6159710, essv6231441, essv5756603, essv6237928, essv6152067, essv6578454, essv5866456, essv5481414, essv5600639, essv6426223, essv6515240, essv5573403, essv5475900, essv5621183, essv5953700, essv6259266, essv5419958, essv5565696, essv5874258, essv6396340, essv6477425, essv5399145, essv5878765, essv6220040, essv6367256, essv6578309, essv5754047, essv6003235, essv5561376, essv5753270, essv5634376, essv6388649, essv6241983, essv6355373, essv5496123, essv6027472, essv6408363, essv6081365, essv6196729, essv5639190, essv5527120, essv5915386, essv5990659, essv6094744, essv6564463, essv5583157, essv6062412, essv6392017, essv6027072, essv6267329, essv5634363, essv5881071, essv6574004, essv5419672, essv5874415, essv6002846, essv5488307, essv6047954, essv6227375, essv5438642, essv5879547, essv6475689, essv6137703, essv6543509, essv5464199, essv5479666, essv6018385, essv5648549, essv5976645, essv6208395, essv5432752, essv6200321, essv5928212, essv5915918, essv6330209, essv5705020, essv6294610, essv5428404, essv5518029, essv6098022, essv5513515, essv6364773, essv5515149, essv5901667, essv6422226, essv6497905, essv5905009, essv6083158, essv6005593, essv5663443, essv5545913, essv5584814, essv5934007, essv6098203, essv5449255, essv5849215, essv5776589, essv5629592, essv6516305, essv6045958, essv5755429, essv6127155, essv6253654, essv5757297, essv5841091, essv5652190, essv5983367, essv6118271, essv6136582, essv6434991, essv6597930, essv5706494, essv6185104, essv5657358, essv5742443, essv5545418, essv6499272, essv5735637, essv6401186, essv6294592, essv6365725, essv5957007, essv6155747, essv5936912, essv6297529, essv6365082, essv6448563, essv5901208, essv6342862, essv5646065, essv6291331, essv5957972, essv6280931, essv5567086, essv5576364, essv5455251, essv5880018, essv5923864, essv5469540, essv5678186, essv5979537, essv6169848, essv5573463, essv5680043, essv5774661, essv5398972, essv6556382, essv6511810, essv6506181, essv6239114, essv5474147, essv5816569, essv5874481, essv6202119, essv6222926, essv6309433, essv6084458, essv5971026, essv6227987, essv6191993, essv5580286, essv5509113, essv6333030, essv5964336, essv6531018, essv6167908, essv6166709, essv5631428, essv6516320, essv5536888, essv5798134, essv6327852, essv5496464, essv6065912, essv6307884, essv6325288, essv5594510, essv6338352, essv5480862, essv5441409, essv5598987, essv6313203, essv6456415, essv5700312, essv6584716, essv6308205, essv5924351, essv6211676, essv5843360, essv6538535, essv5882495, essv5638350, essv6418565, essv6215715, essv6440739, essv6283009, essv5611442, essv6474930, essv5760546, essv5690692, essv6406926, essv5718241, essv5506030, essv5536489, essv6220431, essv5983768, essv5779191, essv5648181, essv5907481, essv6249634, essv5897021, essv6161828, essv5896424, essv6432780, essv6517346, essv5857828, essv5879139
SamplesHG01357, HG00613, NA19312, NA12154, NA18605, NA20787, NA19712, NA18520, NA18595, NA20771, NA19904, NA18530, NA18535, NA19819, HG00500, HG01173, HG00171, HG01083, NA20510, HG00112, HG00186, NA19093, NA20544, HG00565, NA19311, HG00160, NA11918, NA19469, NA20346, NA19435, NA18545, NA18603, HG01389, NA20296, NA20759, NA19359, HG01365, NA19334, NA19453, NA20800, HG01082, HG01488, HG00475, HG00542, HG01174, HG00148, NA19920, HG01350, HG00139, NA18489, NA18546, NA19379, HG01167, NA12058, NA18507, NA20805, HG00111, HG00334, HG00187, HG00404, NA07051, HG00280, HG01101, HG00177, NA19701, NA20798, HG00319, HG00699, NA20322, NA18557, NA19472, NA20803, HG00156, HG01171, NA18868, NA20340, HG00269, NA19463, HG00158, HG01148, NA20505, NA19085, HG00346, HG01384, HG00593, HG01375, HG00421, NA20811, NA18536, NA19675, NA18622, HG00259, NA19443, NA19471, HG01048, NA19444, HG01061, NA20530, NA18617, NA19083, NA12273, NA19908, HG00533, HG00125, NA11843, NA19075, HG00174, HG00634, HG00276, HG00284, NA19457, NA12777, NA19700, NA19728, NA19055, HG00306, NA19360, HG00267, NA19313, NA19380, HG01437, NA19395, NA07346, HG01465, HG00653, NA19374, HG00732, NA19384, HG00325, NA20795, NA19102, NA19005, NA20334, NA18510, NA20344, NA19657, NA19713, NA18977, NA18941, NA19664, HG00265, HG00501, HG00672, NA19901, HG00273, HG00282, HG01170, HG00232, HG01069, NA18504, HG00249, NA18961, HG00277, NA19347, HG01351, NA19909, NA18613, NA20797, HG00513, HG00524, HG01494, NA20582, NA19720, NA18988, HG00329, HG00512, HG00534, NA19707, NA12283, NA18562, NA19074, HG01060, NA18910, NA19382, HG01383, HG00377, NA19318, NA20813, NA18985, NA19789, NA19462, NA18987, HG00427, NA18597, NA19921, HG00590, HG01190, NA18552, NA19138, NA19376, NA20534, HG01095, NA18599, NA19391, NA19078, HG01334, NA20276, NA20799, NA18538, NA19394, NA19403, NA19009, NA20518, HG00138, HG00663, NA19116, NA18631, NA19431, NA18560, NA18989, HG00580, NA19719, HG00118, NA19434, HG00448, NA18602, NA19755, NA19818, HG00608, NA18577, NA19099, NA19446, NA20509, HG01390, NA19452, NA20513, NA11992, HG00123, NA12399, NA20812, HG00656, NA12546, NA12842, HG00142, HG01366, NA18499, HG00422, HG00708, NA19198, NA19916, NA18610, HG00367, NA12045, NA18984, NA19315, HG00693, NA18611, HG01125, NA19130, HG00251, NA19346, HG00119, HG00320, HG00275, HG00324, HG00690, NA18532, NA18549, HG00183, HG01374, NA19350, HG00137, HG01462, HG01489, NA19381, NA19473, HG00626, HG00143, NA19758, HG00336, NA19448, HG00272, HG00345, NA19468, HG00702, HG00271, NA19007, NA19456, HG00136, HG00126, NA19058, NA19746, HG00531, NA18553, HG00312, HG00327, HG00323, NA20281, NA12827, NA18964, NA12718, HG00313, NA19445, HG00152, HG00734, HG01518, NA19436, HG00536, NA07037, NA19321, NA20809, NA20503, HG01072, NA20785, HG01052, HG00100, HG01075, NA18933, HG00127, HG01342, NA20516, HG00731, HG00245, NA19401, HG00736, HG00310, NA19003, NA19455, NA20299, NA12340, NA20775, NA19317, HG01492, NA19451, NA19010, NA19338, NA18573, NA20778, HG00270, HG00553, NA19461, HG00106, NA19834, HG01204, HG01461, HG00651, NA19678, HG00366, NA11893, NA18965, NA19474, NA19084, NA19780, NA19467, HG00188, NA19776, NA19438, NA20586, HG00256, NA20770, HG00244, HG00543, HG00339, NA19726, NA19914, NA20761, NA19067, HG00179, HG00250, HG01140, NA20819, HG00583, NA12383, HG00337, NA11994, NA19057, HG00140, HG00638, NA12155, NA07357, NA19722, NA20801, HG01047, NA20807, NA19396, NA20754, HG00141, NA19397, NA07048, NA19398, NA19440, NA19774, NA20765, NA18547, NA12829, HG01136, NA20336, HG00637, NA18982, HG00254, NA19056, NA19663, NA12830, NA18634, NA20589, HG00237, HG00584, NA19316, NA19684, NA20773, HG00114, HG00436, HG00159, NA19377, NA12046, HG00108, NA19172, NA19703, HG00268, NA19375, NA19393, NA19373, HG00629, NA20826, NA18486, HG00559, NA06986
Known GenesRAD52
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673796
Frequency
Sample Size1151
Observed Gain0
Observed Loss417
Observed Complex0
Frequencyn/a


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