A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656927



Internal ID9923032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133552094..133588200hg38UCSC Ensembl
Outerchr9:133551523..133588770hg38UCSC Ensembl
Innerchr9:136417216..136453322hg19UCSC Ensembl
Outerchr9:136416645..136453892hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3837248
hg1937248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5422437, essv5962869, essv5638469, essv5893608, essv6582748, essv6529252, essv6371103, essv5626778, essv5755490, essv5457969, essv5456264, essv5615919, essv6073691, essv5659264, essv6587936, essv6404858, essv6190978, essv6163531, essv6508769, essv6212817, essv6432272, essv6385595, essv6247708, essv5460508, essv6569638, essv6143511, essv5968933, essv6430445, essv5850348, essv6067012, essv5627694, essv5492771, essv6468085, essv6377043, essv6303936, essv6073520, essv6227617, essv5619256, essv6306907, essv6176799, essv6338466, essv6231544, essv6284593, essv6296457, essv5828503, essv5735547, essv6106681, essv5680699, essv6590819, essv5524982, essv5637610, essv6298378, essv6574990, essv5721919, essv5712990, essv6127118, essv6040778, essv5818671, essv5946615, essv5897235, essv6089963, essv5884948, essv5794441, essv6185606, essv5761254, essv5493036, essv6008125, essv5942253, essv6215695, essv5722114, essv5988084, essv5987567, essv5869663, essv5500266, essv5693281, essv5853997, essv5788256, essv5767117, essv5782845, essv6278343, essv5929762, essv6236350, essv5986677, essv6410080, essv5875668, essv6341088, essv5999039, essv6501532, essv5778379, essv6214333, essv5886570, essv6258377, essv5452587, essv5557807, essv5614176, essv5438172, essv6382623, essv6466663, essv6463461, essv6530800, essv5747525, essv6096602, essv5815691, essv6357760, essv6041601, essv6323006, essv6051861, essv5896658, essv6197394, essv5614726, essv5497449, essv6002189, essv6217762, essv5790667, essv6182234, essv6576501, essv6293856, essv5440989, essv6591679, essv6331412, essv5728180, essv6428728, essv6326594, essv6490695, essv6395787, essv5921876, essv5668191, essv5650549, essv5773496, essv6435565, essv6317270, essv6536403, essv5787823, essv5953893, essv5425336, essv5994186, essv6574675, essv6369545, essv6337062, essv5858596, essv5739057, essv6454230, essv6120275, essv6328814, essv6473261, essv6293074, essv6342736, essv5674921, essv6045783, essv6459366, essv6051687, essv6200916, essv5726325, essv5582339, essv5572702, essv6507208, essv6544034, essv6565576, essv5513820, essv5920904, essv6337889, essv6456426, essv6102962, essv6324312, essv5883540, essv6375420, essv6368313, essv6156609, essv5505780, essv6259854, essv6281757, essv6568370, essv5941595, essv5991888, essv5902888, essv6420796, essv5420958, essv6042470, essv5811383, essv5715065, essv5463939, essv6072184, essv6003358, essv5491301, essv6409972, essv6000004, essv5819639, essv5759870, essv6500816, essv6057325, essv5542911, essv6414837, essv5498464, essv6032380, essv5881336, essv5634057, essv6594904, essv5756458, essv5668747, essv5439137, essv5675055, essv5560865, essv6238791, essv6018698, essv5561602, essv5871452, essv6515733, essv5537804, essv6497907, essv6206821, essv6514427, essv5845805, essv5670485, essv5597601, essv5912888, essv5423058, essv5882106, essv5849822, essv5891539, essv6402385, essv6361205, essv6001303, essv6551619, essv6496869, essv5862406, essv6267488, essv6063910, essv6026828, essv5695715, essv5573897, essv6593894, essv5601371, essv6408808, essv5733292, essv5548831, essv5810155, essv6340976, essv5832748, essv5968187, essv5613311, essv5603518, essv5518336, essv6517919, essv5967276, essv5690301, essv5654141, essv5526690, essv5629364, essv5774204, essv6551142, essv5897668, essv5488853, essv5700438, essv5428264, essv5552145, essv5656305, essv5603455, essv6119696, essv5802293, essv5613167, essv5513250, essv5903915, essv5867547, essv6465229, essv5924399, essv5845900, essv5688189, essv6148008, essv5448619, essv5517577, essv5964456, essv5765923, essv6241674, essv6114951, essv5451440, essv5626082, essv5863145, essv5702522, essv6270409, essv6381447, essv5953455, essv6241546, essv6218463, essv5874787, essv5747518, essv5652018, essv5983482, essv5832595, essv5752329, essv6337044, essv5446216, essv6149846, essv5796555, essv6326515, essv5871765, essv6134566, essv6112328, essv5396848, essv6131772, essv5607380, essv6329579, essv5938817, essv5413231, essv6280317, essv6594556, essv6437661, essv5905916, essv6586457, essv5477725, essv5403799, essv6429656, essv5796982, essv6391537, essv6354670, essv5979437, essv6078452, essv6040520, essv5847426, essv6548836, essv6312871, essv5472126, essv5410216, essv6131474, essv6167171, essv6084726, essv6286909, essv6214988, essv6464397, essv5664756, essv6386840, essv6298323, essv6041865, essv5916814, essv5547628, essv6144125, essv5934253, essv6391001, essv5533414, essv6438237, essv6344244, essv5551334, essv6462772, essv6259467, essv5777611, essv6187814, essv5651128, essv6086700, essv5982765, essv6431098, essv6359624, essv6297467, essv5958428, essv5842012, essv5726943, essv6125034, essv5801546, essv5926981, essv5603750, essv6297913, essv5661937, essv6130327, essv5929790, essv5787340, essv5510327, essv6358335, essv5438863, essv6595104, essv6258909, essv6141742, essv6429617, essv6313090, essv5480220, essv6182709, essv6155695, essv6132616, essv6514889, essv5614602, essv5591762, essv6373897, essv5970545, essv5588119, essv5629630, essv6537833, essv6428773, essv6300120, essv5568353, essv6415581, essv6014123, essv5455505, essv6412122, essv6342328, essv6230179, essv6208686, essv6160286, essv5651426, essv6418195, essv5489849, essv6097414, essv5618675, essv5490881, essv5702417, essv6242637, essv5743306, essv5701788, essv6359968, essv6124727, essv5920194, essv5538349, essv5562581, essv6173400, essv6193463, essv5429612, essv5454355, essv5452863, essv6149509, essv6220752, essv5499773, essv6173457, essv6337878, essv5408896, essv6429834, essv6460238, essv6248055, essv6574765, essv6259996, essv6596594, essv5407126, essv6291863, essv5512721, essv5610562, essv5747637, essv6585040, essv6561992, essv5829279, essv5625486, essv6117998, essv6356522, essv5453095, essv5856701, essv6411328, essv5672429, essv6433839, essv5697999, essv6510837, essv6212174, essv6187866, essv5872703, essv5751370, essv6069800, essv6328848, essv5642339, essv6175457, essv5589094, essv6462111, essv5857137, essv6036911, essv5556213, essv6479316, essv5982809, essv5907490, essv5807617, essv5691454, essv6395420, essv5939022, essv5762805, essv5436117, essv5579820, essv6203420, essv6412447, essv5707493, essv5653331, essv5536204, essv6363880, essv5879844, essv5929024, essv6302699, essv5635844, essv5812580, essv6190766, essv5864862, essv6537523, essv6006755, essv5646340, essv5519973, essv6228856, essv5777013, essv6504539, essv5578929, essv5716947, essv6160262, essv5617225, essv6557807, essv6209051, essv5670932, essv6283332, essv5988577, essv5494162, essv6542307, essv5841552, essv6275413, essv5865160, essv5461798, essv6494650, essv6192102, essv6527998, essv6284286, essv5810284, essv5769564, essv6298193, essv6244099, essv6120865, essv6422172, essv6412738, essv5579653, essv6188807, essv5977980, essv5861925, essv6551102, essv6014648, essv5998351, essv5492494, essv6337015, essv6016285, essv5976283, essv6562187, essv5475776, essv5594067, essv6147859, essv5857858, essv6576297, essv5807860, essv5577124, essv5932426, essv5977336, essv5555548, essv5720867, essv6538445, essv5796948, essv5535031, essv6234671, essv5999788, essv6461496, essv6310405, essv5701222, essv6358638, essv5734634, essv5667321, essv6107303, essv6004258, essv5848601, essv6245620, essv5932147, essv5548739, essv5834548, essv6358880, essv6089853, essv5434070, essv6387771, essv6142642, essv6100079, essv5607167, essv6536310, essv6525079, essv5402827, essv5658824, essv6593304, essv6262319, essv6521438, essv6384773, essv5839030, essv6295632, essv6180236, essv5412716, essv6084217, essv5977054, essv6294584, essv5947269, essv5551852, essv6207589, essv5985157, essv6454380, essv5755418, essv6159514, essv6586691, essv6364981, essv5696768, essv5601902, essv6126832, essv5725265, essv6046902, essv6574844, essv6540394, essv5689955, essv5545041, essv6248018, essv5718344, essv5823054, essv6570862, essv6083272, essv6054376, essv5952300, essv6359309, essv5865932, essv5632204, essv6446154, essv6343376, essv6271302, essv5927948, essv5459053, essv5810229, essv5782919, essv6147819, essv6546063, essv6432656, essv5935735, essv5505165, essv5765266, essv6156348, essv5991024, essv5711479, essv6531628, essv5738659, essv5473915, essv6268139, essv6160399, essv6574330, essv5837052, essv5670720, essv6397189, essv6172800, essv6031448, essv6002354, essv6413904, essv5624464, essv6234076, essv5744013, essv6359955, essv5773840, essv6515935, essv6345736, essv5482064, essv5765607, essv6451306, essv6186114, essv5685228, essv5763393, essv6075632, essv5950826, essv6446828, essv6547534, essv5737595, essv5957592, essv6234646, essv5937713, essv5506013, essv6095207, essv6527644, essv6437821, essv6207674, essv5779255, essv5948051, essv5623774, essv6141233, essv5975169, essv5854886, essv6441738, essv5693264, essv5494969, essv6509792, essv6092007, essv6282240, essv5783583, essv6559447, essv6090943, essv5556061, essv5714488, essv5689983, essv5411350, essv5475585, essv5801322, essv5678895, essv5756809, essv5471071, essv5997244, essv6594778, essv6266460, essv6089366, essv5760467, essv6471851, essv5919704, essv5883392, essv6507057, essv5822412, essv5724755, essv5674879, essv5402281, essv5561335, essv6041095, essv5459210, essv5537827, essv5857938, essv5678464, essv5458667, essv5760434, essv5597577, essv5728608, essv6415263, essv5839982, essv6483738, essv6128139, essv6043012, essv5843319, essv5899483, essv6469278, essv6115620, essv6302619, essv5616407, essv6286428, essv6449808, essv5904990, essv5532261, essv5940579, essv5811539, essv6546921, essv5812562, essv5610212, essv6514187, essv6120676, essv6118555, essv6575733, essv6015840, essv5684289, essv5448559, essv6335657, essv5967429, essv6278571, essv6358426, essv5748893, essv5746791, essv6426545, essv5707986, essv5719410, essv5596188, essv6587778, essv5772885, essv5617469, essv5429495, essv5746118, essv5407822, essv5503503, essv6534502, essv5923336, essv5400116, essv6189497, essv6023663, essv5703132, essv6045128, essv5603456, essv6491986, essv6035525, essv5632861, essv6365678, essv5705831, essv6529851, essv6366759, essv5782472, essv6424174, essv6279472, essv5471209, essv5863671, essv6146938, essv5493500, essv6547028, essv6121441, essv6569239, essv5814586, essv6073258, essv6390421, essv6174668, essv5573845, essv5952664, essv5666810, essv5442799, essv5900516, essv5720476, essv5652619, essv6369290, essv5574862, essv6467984, essv5801242, essv5664924, essv6377295, essv5912653, essv6023693, essv5448667, essv5826528, essv5411935, essv5471109, essv5496971, essv6066906, essv5904364, essv5957873, essv6024655, essv5559521, essv6221929, essv6015955, essv6453924, essv6281248, essv5791946, essv5764516, essv6478162, essv6126864, essv6378769, essv5481911, essv5930834, essv6209689, essv5977357, essv6536510, essv6316957, essv6287732, essv5915235, essv5881553, essv5409407
SamplesNA20588, NA18502, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA20512, NA12751, NA18504, NA19684, NA19377, NA18530, HG01518, HG01461, NA19920, NA18633, NA12750, NA20806, NA19067, NA12813, NA19446, HG00138, NA19171, HG01350, NA19379, HG00589, HG00122, NA19315, NA20798, NA20589, NA19678, NA20756, NA20795, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA18574, NA07048, NA11918, NA18582, NA20768, HG01365, NA19384, HG00537, HG00243, NA20291, NA19079, NA18949, HG00158, HG00512, HG00139, NA20759, NA19720, NA20775, HG01519, NA20812, NA18868, NA19172, NA18985, NA20757, NA19985, NA18867, HG01550, NA20515, NA19789, NA20755, NA19921, HG00137, NA12777, NA18951, NA18605, NA20535, NA12489, NA20800, NA18538, NA19070, NA19056, HG00657, NA20810, NA20760, NA19717, NA19663, NA19081, HG01498, NA20519, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18907, NA18537, NA19084, HG00690, HG00404, NA12829, NA11893, NA19750, NA19453, NA18532, NA06989, NA19059, HG01334, NA19009, NA19452, NA19682, NA18523, HG00463, NA19318, NA12778, NA19395, HG00126, NA19625, NA18593, NA20799, NA19729, HG00611, NA19652, NA19440, NA19256, NA18517, NA19712, NA19434, NA18564, NA18628, HG00580, NA19444, NA19331, NA20520, NA19010, NA19470, NA19428, HG00116, NA19083, NA18943, NA20281, NA19360, NA12763, HG00662, NA18615, HG01342, NA12347, NA19328, HG00614, HG00513, HG00478, NA19785, NA18631, NA19223, NA19779, NA18609, NA19102, NA18873, HG00112, NA19770, NA20826, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, NA18577, NA11832, NA20772, HG00593, HG00626, HG00096, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19397, NA18924, NA19466, NA11995, NA18592, HG01359, NA18980, HG00100, NA18561, NA19704, NA18507, NA11933, NA18599, HG01389, HG01374, NA20813, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA20808, NA20346, HG00150, NA20507, NA19190, NA19098, NA18526, NA12400, NA12413, NA12341, NA20537, NA19068, HG01250, NA19746, NA19660, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00702, HG00689, NA19723, NA18635, NA19916, NA20769, HG00634, NA19131, NA18942, HG00610, NA19197, HG01354, NA20540, NA12287, HG00247, NA19054, NA18498, NA20513, NA19681, NA20336, HG00590, NA20541, NA12761, HG01134, NA12282, NA19651, HG00120, HG00683, HG00106, HG00236, HG00262, NA19719, NA20340, NA19371, NA18560, NA19075, NA18617, NA19471, NA19087, NA12889, NA19159, NA19725, NA19189, NA18520, NA19209, NA12828, NA18908, NA18973, HG00530, HG00419, NA19451, NA18638, NA12748, HG00464, HG00108, NA20818, NA19007, HG00543, HG01136, HG00560, NA19247, NA18613, HG00629, NA19657, HG01360, NA19082, NA19707, NA20787, NA20524, HG01384, NA12342, NA19077, HG00428, NA19462, NA19347, NA20809, NA20536, NA19391, NA19327, HG00475, NA19982, HG00584, HG00500, NA19788, NA18910, NA18976, NA20770, NA20344, NA19776, NA19000, NA19655, NA18499, HG01383, NA18853, NA20282, NA19225, NA20828, NA19756, HG00141, NA19160, NA18536, NA20542, NA18576, NA20526, NA20296, NA19685, NA19401, HG00476, NA20801, HG00119, NA18535, NA11881, NA19834, NA19108, NA18952, NA18543, NA18559, NA12775, NA19749, HG00565, NA18950, NA19732, HG01253, HG00136, NA07051, HG00607, NA20504, NA19786, NA20803, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, NA19438, NA20582, NA19472, NA18987, NA12749, NA19713, NA20807, NA19726, NA18972, NA18552, HG00252, HG01377, NA18984, HG00472, NA07056, NA18505, NA19004, NA20322, NA18549, HG00437, NA19153, NA20509, NA19394, NA12383, NA19701, NA20761, HG00542, NA12717, NA12842, HG00143, NA19703, HG01462, NA19909, NA20766, NA12286, NA20508, HG00671, NA19066, HG00242, NA19204, NA18861, NA18508, NA10851, HG00559, NA12273, NA20783, NA18565, NA20514, NA20816, NA20752, NA20802, HG00244, NA19350, NA19359, NA20294, NA19355, NA12340, NA20332, NA18959, HG00115, NA18616, HG00449, NA20517, HG00654, NA19443, NA20356, HG00261, NA20771, NA18510, NA12399, NA18602, HG01522, HG00693, NA18988, NA18627, NA19107, HG00663, NA20814, NA07346, NA18563, NA19373, NA18940, NA18519, NA19319, NA18597, HG01351, NA20774, NA18923, NA18567, NA19062, NA07347, NA19457, NA18571, NA20287, NA19904, NA19130, NA11930, NA20539, NA12275, NA20518, NA20278, HG00148, NA12156, HG00156, NA11932, HG00232, NA19372, NA12044, NA11994, HG00534, NA19235, NA19207, HG00705, NA19722, HG00160, HG00118, NA18990, NA18557, NA20342, NA20127, HG00253, NA18539, NA20753, HG01124, HG00154, NA19908, HG00443, NA19403, HG00557, HG00245, NA18933, NA19455, NA20314, HG00556, HG00583, HG00263, NA18579, NA18871, HG01149, NA18534, HG00239, NA20525, NA19654, NA18573, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, HG00479, HG00684, NA18912, HG00140, NA18553, HG01497, NA19099, NA19761, NA18555, HG00152, HG00146, HG00704, NA12144, NA19469, HG00246, NA18570, NA18858, NA12546, NA18541, NA19012, NA18974, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, HG00625, NA20276, NA19747, NA20815, NA19072, NA12272, HG01551, HG01357, NA20790, NA20530, NA20527, HG01375, NA19835, HG00473, NA20792, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, HG01137, NA19783, HG00418, NA18610, HG01489, HG00620, NA18501, NA06994, HG00259, NA19716, NA19468, NA19474, NA19093, NA20510, NA18636, NA20289, NA20786, NA11843, NA20758, NA19116, NA19080, NA19780, NA19711, NA18983, NA20502, NA19430, NA11892, NA19316, NA19312, HG01125, NA12890, NA12006, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, NA19676, NA18620, HG01516, HG00403, NA11830, HG01521, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, HG00524, NA19914, NA19332, NA20531, NA20532, NA18917, NA18486, HG01465, HG00103, NA18545, NA19393, NA20805, NA19777, NA19057, NA18596, HG01456, HG00566, NA18606, NA18870, NA12155, NA07357, HG01140, NA18967, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA19119, NA18982, NA19198, NA20317, NA12348, NA11992, NA12283, NA19771, NA19088, NA19138, NA19782, NA18964, NA18611, NA19404, HG01455, NA19383, NA18874, NA20819, NA06984, HG01495, NA19917, NA19137, NA19731, NA19385, HG00422, NA19317, NA18986, HG01440, HG00427, NA20811, NA19901, HG00159, NA19456, NA19445, NA18975, NA20533, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00133, NA18544, NA19437, NA18934, HG00596, NA20505, NA12003, NA19152, HG00653, HG00577, NA18956, HG00701, HG01515, NA19236, NA18516, HG00436, HG00533, NA18637, NA20506, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, NA19114, NA20299, NA19774, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, HG00525, HG00157, NA12827, NA19338, NA19257, NA18634, NA20534, NA19675, NA18945, NA19436, NA20765, NA18546, NA18608, HG00124, NA20773, NA20522, NA18542, NA12716, NA18909, NA19321, NA18961, NA19473, NA19435, NA18941, NA20804, NA19773, NA19380, NA19144, NA20785, NA12046, NA19334, HG01494, NA19467, NA20516, NA20797, NA07037, NA19085, NA06986, NA19398, HG00111, NA20348, NA18971, HG01491, NA19060, HG00421, HG00656, NA20334, HG01254, HG00123, HG00698, HG00131, NA19213, NA20528, HG01251, NA19661, HG01378, NA19755, NA19758, NA18511, NA07000, NA18522, HG01112, NA18622, NA18562, NA12776, NA18965
Known GenesADAMTSL2, FAM163B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656927
Frequency
Sample Size1151
Observed Gain0
Observed Loss823
Observed Complex0
Frequencyn/a


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