A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658087



Internal ID9577506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56860711..56861242hg38UCSC Ensembl
chr17:54938072..54938603hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6548649, essv6436536, essv6386533, essv5492538, essv6085577, essv5604847, essv6109725, essv5461588, essv5935712, essv6212445, essv5541442, essv6533304, essv5514878, essv6396923, essv5839933, essv5816398, essv5515920, essv6262012, essv5724591, essv6099007, essv5621039, essv5995731, essv6065878, essv6250471, essv5447062, essv6311206, essv6423654, essv6557259, essv6368119, essv6266850, essv5425754, essv5504955, essv5441744, essv5653101, essv6360798, essv6171879, essv6462441, essv5701572, essv6148618, essv6146264, essv5474600, essv5801494, essv6220467, essv5794615, essv5760972, essv6575562, essv6371732, essv6571828, essv5608911, essv6234355, essv5845762, essv5557371, essv6024116, essv6073763, essv5638280, essv6358799, essv6178955, essv6097455, essv6036366, essv6207203, essv6397826, essv6467503, essv6045226, essv6354629, essv6063935, essv6037605, essv6242319, essv6194239, essv6232577, essv6245359, essv5873956, essv5760641, essv5914554, essv5887369, essv5506897, essv5854349, essv6403683, essv5985720, essv6257982, essv6479402, essv5752271, essv6477864, essv6162821, essv6562848, essv5749605, essv5629980, essv5953159, essv6533029, essv5645790, essv5613117, essv5731299, essv5423218, essv5410797, essv6494145, essv6584101, essv6280780, essv6153316, essv5958387, essv5770503, essv5468901, essv5756413, essv5694302, essv6379996, essv6172750, essv5812047, essv6592946, essv6199394, essv6107742, essv6558259, essv6160310, essv6477082, essv5737462, essv5722663, essv5447178, essv5560335, essv6036711, essv5581007, essv5589736, essv5815284, essv6029074, essv5813405, essv5460328, essv6582620, essv6177746, essv6106927, essv5940863, essv5733533, essv6482641, essv6434986, essv6057656, essv6207152, essv6191116, essv5924361, essv5889512, essv6024058, essv5732445, essv6388066, essv6565339, essv5611521, essv6226411, essv6018900, essv6575407, essv6537874, essv6367678, essv5729047, essv5730130, essv5759507, essv6025935, essv6018720, essv5961938, essv5759653, essv6178621, essv5948695, essv6557442, essv6485616, essv5689777, essv6046255, essv5549561, essv5521061, essv6541266, essv5872995, essv5462672, essv6286179, essv6504852, essv5474266, essv5924104, essv6227726, essv5860655, essv6481487, essv5569687, essv6377788, essv6292486, essv5708858, essv6122146, essv5572250, essv5968319, essv6384878, essv6570410, essv5728223, essv6025132, essv5661913, essv5948392, essv5852698, essv6137279, essv6134405, essv6049266, essv6208133, essv6479097, essv5604586, essv5479164, essv6184789, essv6042749, essv6054081, essv6201796, essv5826170, essv5945865, essv6586162, essv6209660, essv5495243, essv5830372, essv5860432, essv6278474, essv5700816, essv6494893, essv6174991, essv6124797, essv5656325, essv6571470, essv6545119, essv5990867, essv5939267, essv5893727, essv5564872, essv6130623, essv5737920, essv5628077, essv6343841, essv6340358, essv6288239, essv5920082, essv5755564, essv5673309, essv6144012, essv5777129, essv5925203, essv5427934, essv6380112, essv5609136, essv6578347, essv5647022, essv5624179, essv5589886, essv6551661, essv6372718, essv5522372, essv5564023, essv6471109, essv5399737, essv6076751, essv5583170, essv5888666, essv5570400, essv6167043, essv5530290, essv6588173, essv5864824, essv6146013, essv5966953, essv5520095, essv5403363, essv5459107, essv6567962, essv5556030, essv6210176, essv5704164, essv5534735, essv6294242, essv6118896, essv5544818, essv5530639, essv5834560, essv5551829, essv5662772, essv6188540, essv6459018, essv6039437, essv5692643, essv5923601, essv5535683, essv6191099, essv6563345, essv6581594, essv5619896, essv5609636, essv6358859, essv6265000, essv6179315, essv6110658, essv6013670, essv6390088, essv5734372, essv6295408, essv6294248, essv6408527, essv6546437, essv5553902, essv6327378, essv6292388, essv5662687, essv5440021, essv5983023, essv5850604, essv5499235, essv6006709, essv5753451, essv5878323, essv5816924, essv5888134, essv5607964, essv5818340, essv6456786, essv6417672, essv6010079, essv5743524, essv5832450, essv6394323, essv5579988, essv6464226, essv5909385, essv5452405, essv6533580, essv5604865, essv5429170, essv6551856, essv6487381, essv6289031, essv5911700, essv6537445, essv6418662, essv5946122, essv5814909, essv5787248, essv6525623, essv6162318, essv5921907, essv5407266, essv6462005, essv6144470, essv5666869, essv5661159, essv6188188, essv6248660, essv5405645, essv6536003, essv6109107, essv5912970, essv6054589, essv5495318, essv6184192, essv5561956, essv6196597, essv6552215, essv5935829, essv6573155, essv5570302, essv6342212, essv5547226, essv5789702, essv5432576, essv6288119, essv6040119, essv5459535, essv6150790, essv6074843, essv6569879, essv5771332, essv5618848, essv6146734, essv6466392, essv5825169, essv6473257, essv5833149, essv5784607, essv6006989, essv6194331, essv6138909, essv6208823, essv5858966, essv5904695, essv5633435, essv6176124, essv5454285, essv6495719, essv6174352, essv6492530, essv5541654, essv5765920, essv6405171, essv5415230, essv6401093, essv6290504, essv6501129, essv6469813, essv6055298, essv5844592, essv5624827, essv6284616, essv6130665, essv6500018, essv6121353, essv5875978, essv6203769, essv5633020, essv5496240, essv6461365, essv6226220, essv5429081, essv5735039, essv6287020, essv5668471, essv5874471, essv5941607, essv5532989, essv6379952, essv6091141, essv6028364, essv6426160, essv6335645, essv6281996, essv6469290, essv6259136, essv6100355, essv6308320, essv5889955, essv5551590, essv5530254, essv6293513, essv6282195, essv6121984, essv5834665, essv6560627, essv5886377, essv6558158, essv6155403, essv6529242, essv6514109, essv5884085, essv6191234, essv5806484, essv5724007, essv6512682, essv6357351, essv5405086, essv5622816, essv5964719, essv5445449, essv5560596, essv5940627, essv5546750, essv6563028, essv6228972, essv5762708, essv5467642, essv6529587, essv5557442, essv6227052, essv5967605, essv5429456, essv5435554, essv6042984, essv6000629, essv6304886, essv6002842, essv5681332, essv6253139, essv5883387, essv5820132
SamplesHG01112, NA18549, NA18622, HG00437, NA18562, NA18965, NA20509, NA20588, NA19394, HG00189, NA19701, NA20761, HG00650, NA19058, NA12842, HG00143, NA18621, NA18947, NA19664, NA19066, NA18508, NA10851, HG00559, NA18565, NA20514, NA12843, NA11920, NA11931, HG00257, HG01066, NA20816, NA20802, NA20512, HG00181, NA19355, NA12340, NA20332, NA19684, NA18530, NA18959, NA20517, HG01461, HG01051, NA20771, NA12750, NA20806, NA19067, NA18602, NA18988, NA18627, HG00337, NA20814, HG00138, NA19373, NA18940, HG00122, NA19315, NA18597, NA20589, HG01351, HG01177, HG01167, NA18558, NA18960, NA19062, NA18916, NA11918, NA18582, NA18571, HG01365, HG00334, NA20287, HG00185, NA19904, HG00537, NA19130, NA19079, NA11930, NA20539, HG01069, NA19720, NA20518, HG00335, HG00156, NA20812, HG00325, NA11932, HG00232, HG00534, NA19172, HG00118, NA18990, HG01198, HG01048, NA18985, HG01133, NA18867, NA20755, NA19921, NA20753, NA18951, NA18605, NA20535, NA12489, HG00443, NA18538, HG00268, HG00266, HG01171, HG00282, NA19070, NA19056, NA19403, HG00557, NA18933, HG00732, NA20521, HG01095, NA20760, NA19717, HG00556, HG00583, HG01498, HG00263, NA12718, NA18871, NA18572, NA18948, NA18534, HG00692, NA19064, NA18548, HG00740, NA18907, NA18537, NA20525, HG01102, HG00324, HG00284, HG00651, HG00250, NA19084, HG00404, NA11893, HG00331, NA18912, NA18532, HG00152, NA18963, HG00704, NA19682, NA12144, HG00463, NA19469, NA19318, NA12778, NA18570, NA19625, NA18593, HG01075, NA18953, NA19375, NA19003, HG00258, NA20799, NA18632, NA19440, NA18533, HG00265, NA19147, NA20276, NA19712, NA19434, NA18564, HG00353, NA20815, NA19072, HG00580, NA19444, NA19331, NA19010, HG01357, HG01174, NA20530, NA20527, NA19835, HG00473, HG00237, NA19083, NA19783, HG00662, HG00418, NA18615, HG01489, NA12347, HG00620, HG00339, NA18501, NA18631, NA19779, NA20510, NA20786, NA18873, NA11843, NA20758, NA19116, NA20826, NA19780, NA19900, HG00595, NA20502, NA19430, NA18989, NA19312, HG00628, HG00171, NA12890, NA18623, NA20585, NA19063, NA12154, NA18612, NA20754, NA19429, NA19074, NA18487, HG00581, NA18577, NA20772, NA19676, NA18620, HG00114, NA11830, HG01521, HG01098, NA19055, HG00536, HG00231, HG00249, NA19466, NA11829, NA18592, HG01359, HG00524, HG01052, HG00187, HG01079, NA18561, NA18507, NA11933, NA18599, HG01389, NA20813, NA18603, NA12045, HG00640, HG00318, NA19092, HG01465, HG00103, NA18545, NA19819, NA19393, NA20805, NA19777, NA19057, NA18596, HG01456, HG00566, NA19190, NA18870, NA18526, NA12155, HG01140, NA12413, NA19068, NA19746, NA19381, NA19076, NA20796, NA19005, NA18550, NA19382, NA19762, NA19728, NA18595, HG00702, HG00689, HG00448, NA18982, NA18619, NA19197, HG00346, NA19088, NA12287, NA19138, NA19054, HG00369, NA18498, NA20513, NA19782, NA19681, NA20336, NA18964, HG01110, HG00590, NA18611, NA19404, NA12761, HG01134, HG00277, HG01455, HG00120, NA19383, NA18874, NA20819, NA06984, NA18977, NA19917, NA19719, HG01072, NA19371, NA18560, NA18617, HG00422, NA18986, HG00309, NA19901, NA19189, NA18520, HG00637, HG00338, NA20533, NA18908, NA18973, NA18638, NA11993, HG00464, HG00260, NA20818, NA19007, NA11831, HG01353, HG00543, HG00133, HG01183, HG01136, NA18544, NA18613, NA19657, HG00176, NA19707, NA20787, NA20524, NA19077, NA12003, HG00428, NA20809, NA18956, HG01515, NA19391, NA19327, HG00475, HG00320, HG00584, NA18637, NA19788, NA19658, NA20770, NA18630, HG00635, NA18566, HG01073, NA19114, NA20299, NA19000, NA19449, HG00373, HG01197, NA18499, NA20538, HG00525, NA12827, NA20282, NA19257, HG00276, NA20542, NA20534, NA18576, NA18546, NA20296, NA18608, NA19685, NA19401, HG00476, HG00124, NA20773, NA20522, NA20801, NA12716, NA18909, NA11881, HG00285, NA19834, NA19321, NA19108, NA18952, NA18543, NA12775, NA19749, NA18950, HG00375, HG01253, NA19435, NA18941, NA07051, NA20785, NA19334, HG00607, NA20504, NA19467, NA20516, HG00256, NA19085, NA06986, HG00269, HG00125, NA19818, NA19759, NA19398, NA19078, HG00707, HG00672, HG00111, HG00578, NA19248, NA20582, NA19060, HG00421, HG00329, HG00656, HG01055, HG00174, HG00123, NA20807, HG00698, HG00131, NA19213, NA20528, NA19661, HG01377, HG00472, NA19755, NA19004, NA18488, NA19758, NA20322
Known GenesDGKE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658087
Frequency
Sample Size1151
Observed Gain0
Observed Loss457
Observed Complex0
Frequencyn/a


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