A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639894



Internal ID6679984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8810120..8811975hg38UCSC Ensembl
Innerchr17:8810120..8811975hg38UCSC Ensembl
Outerchr17:8809643..8812440hg38UCSC Ensembl
chr17:8713438..8715293hg19UCSC Ensembl
Innerchr17:8713438..8715293hg19UCSC Ensembl
Outerchr17:8712961..8715758hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381856
hg191856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15609461, essv15609417, essv15609650, essv15609552, essv15609480, essv15609935, essv15609703, essv15609372, essv15610162, essv15610044, essv15609370, essv15609479, essv15610180, essv15609838, essv15609715, essv15609459, essv15609400, essv15610097, essv15610128, essv15609696, essv15609967, essv15610102, essv15610060, essv15609809, essv15610106, essv15609607, essv15610072, essv15609790, essv15609683, essv15610049, essv15609844, essv15609657, essv15609492, essv15609483, essv15609463, essv15610000, essv15609519, essv15610119, essv15609750, essv15609855, essv15609495, essv15610177, essv15609426, essv15610140, essv15610036, essv15610009, essv15609746, essv15610007, essv15609982, essv15609489, essv15610123, essv15609826, essv15609823, essv15609592, essv15609699, essv15609759, essv15609975, essv15609718, essv15610165, essv15609805, essv15609373, essv15609889, essv15609830, essv15609994, essv15609984, essv15609896, essv15610045, essv15609840, essv15609509, essv15610098, essv15609936, essv15609397, essv15609523, essv15609845, essv15609679, essv15609682, essv15609993, essv15609848, essv15609545, essv15610150, essv15609834, essv15609423, essv15610020, essv15609438, essv15609986, essv15609424, essv15609414, essv15609839, essv15609727, essv15609979, essv15609843, essv15610082, essv15610090, essv15609578, essv15610055, essv15609739, essv15609413, essv15609771, essv15609755, essv15609864, essv15610015, essv15609538, essv15609670, essv15609647, essv15609691, essv15609904, essv15609756, essv15609577, essv15610077, essv15609648, essv15610037, essv15609955, essv15609867, essv15609418, essv15610100, essv15609723, essv15610003, essv15610048, essv15610143, essv15610050, essv15609610, essv15609536, essv15609681, essv15609603, essv15609586, essv15609478, essv15610076, essv15609789, essv15609639, essv15609387, essv15609927, essv15609938, essv15609615, essv15610142, essv15610031, essv15610154, essv15609731, essv15609700, essv15609605, essv15610032, essv15609917, essv15609833, essv15609906, essv15610145, essv15609694, essv15610008, essv15609980, essv15610086, essv15609621, essv15609412, essv15609556, essv15609787, essv15609920, essv15609553, essv15609625, essv15609819, essv15609383, essv15609978, essv15609642, essv15609707, essv15609631, essv15610133, essv15609637, essv15609419, essv15610066, essv15609508, essv15610127, essv15609636, essv15609963, essv15609408, essv15610146, essv15610047, essv15609766, essv15609472, essv15609481, essv15610041, essv15609974, essv15609698, essv15609431, essv15609570, essv15609649, essv15609799, essv15609697, essv15609407, essv15609565, essv15609810, essv15609969, essv15609743, essv15609643, essv15610129, essv15609770, essv15609609, essv15609628, essv15609402, essv15609852, essv15609550, essv15609593, essv15609405, essv15609498, essv15609893, essv15610115, essv15610111, essv15609543, essv15609464, essv15610172, essv15610147, essv15610033, essv15609784, essv15609558, essv15609831, essv15609885, essv15609422, essv15610075, essv15609761, essv15609488, essv15610136, essv15610109, essv15609953, essv15609841, essv15610040, essv15609870, essv15609798, essv15609494, essv15609576, essv15610027, essv15610052, essv15609887, essv15609444, essv15609644, essv15609693, essv15609549, essv15609672, essv15609881, essv15609476, essv15609710, essv15609466, essv15609491, essv15609477, essv15609916, essv15609573, essv15609520, essv15609561, essv15609724, essv15609951, essv15609518, essv15609751, essv15609721, essv15610087, essv15610105, essv15609825, essv15609777, essv15610124, essv15609816, essv15609371, essv15609375, essv15609909, essv15609795, essv15610139, essv15609656, essv15610120, essv15609685, essv15610051, essv15609668, essv15609511, essv15610157, essv15609858, essv15610058, essv15609501, essv15610175, essv15609503, essv15609781, essv15609475, essv15610131, essv15610043, essv15609590, essv15609888, essv15609897, essv15609620, essv15609630, essv15609640, essv15610053, essv15609803, essv15609567, essv15609822, essv15609537, essv15609442, essv15610079, essv15610068, essv15609886, essv15609516, essv15609918, essv15609551, essv15610024, essv15609880, essv15609460, essv15609850, essv15609652, essv15609829, essv15609581, essv15609452, essv15609783, essv15609923, essv15610059, essv15609983, essv15609564, essv15609441, essv15609998, essv15609922, essv15610095, essv15610166, essv15609812, essv15609846, essv15609574, essv15609808, essv15609612, essv15609482, essv15609752, essv15610030, essv15609959, essv15609420, essv15609713, essv15609587, essv15609634, essv15609527, essv15610025, essv15609996, essv15609972, essv15610101, essv15609866, essv15609709, essv15609717, essv15609678, essv15610113, essv15609539, essv15609884, essv15609821, essv15609368, essv15610029, essv15609490, essv15609989, essv15609732, essv15609449, essv15609443, essv15609382, essv15609928, essv15609908, essv15609742, essv15609531, essv15609680, essv15610035, essv15609890, essv15609753, essv15609900, essv15609415, essv15609907, essv15609847, essv15609386, essv15610171, essv15609921, essv15609434, essv15610149, essv15609871, essv15609427, essv15610093, essv15609595, essv15609664, essv15609776, essv15610014, essv15609933, essv15609926, essv15609730, essv15610130, essv15610088, essv15609977, essv15609428, essv15609456, essv15609665, essv15609641, essv15609395, essv15609860, essv15609381, essv15609964, essv15610038, essv15609388, essv15609836, essv15609861, essv15609726, essv15610152, essv15609940, essv15610153, essv15610132, essv15610065, essv15609627, essv15609779, essv15609618, essv15609820, essv15609793, essv15610176, essv15609692, essv15609596, essv15610121, essv15609654, essv15609796, essv15609606, essv15609970, essv15609411, essv15609651, essv15609626, essv15609995, essv15610156, essv15609614, essv15609369, essv15609824, essv15609575, essv15609535, essv15609502, essv15609473, essv15609879, essv15609515, essv15609608, essv15609782, essv15610073, essv15610117, essv15609999, essv15609616, essv15609981, essv15609517, essv15609421, essv15610085, essv15610016, essv15609754, essv15609762, essv15609448, essv15609601, essv15609499, essv15609859, essv15609735, essv15610092, essv15610173, essv15610144, essv15609585, essv15610063, essv15609653, essv15610019, essv15609583, essv15609512, essv15609737, essv15610168, essv15609594, essv15610010, essv15609804, essv15609541, essv15609902, essv15609740, essv15609589, essv15609733, essv15609932, essv15610114, essv15609992, essv15609835, essv15609987, essv15609817, essv15609450, essv15609376, essv15609705, essv15609765, essv15609873, essv15609807, essv15609957, essv15609611, essv15609534, essv15609903, essv15609780, essv15609619, essv15609588, essv15609794, essv15610174, essv15609775, essv15609660, essv15609874, essv15609948, essv15609815, essv15610071, essv15609454, essv15609633, essv15609862, essv15609929, essv15609711, essv15609966, essv15610084, essv15609911, essv15609702, essv15610138, essv15609913, essv15609688, essv15609635, essv15609767, essv15609690, essv15609458, essv15609379, essv15609891, essv15609401, essv15609791, essv15609500, essv15609837, essv15609390, essv15609447, essv15609786, essv15609663, essv15610074, essv15609800, essv15609673, essv15609597, essv15609377, essv15609602, essv15609513, essv15610057, essv15609960, essv15610042, essv15609404, essv15609905, essv15609764, essv15609667, essv15609851, essv15609526, essv15609446, essv15609409, essv15609988, essv15609772, essv15609451, essv15609629, essv15609403, essv15610126, essv15609747, essv15609722, essv15609827, essv15609579, essv15609624, essv15610159, essv15610046, essv15609436, essv15609872, essv15609410, essv15609437, essv15610012, essv15609937, essv15609486, essv15609385, essv15609925, essv15609497, essv15609745, essv15609714, essv15609676, essv15609919, essv15609961, essv15609544, essv15609958, essv15609915, essv15609716, essv15609712, essv15609554, essv15609384, essv15610034, essv15609868, essv15609744, essv15609947, essv15609971, essv15610158, essv15609604, essv15610164, essv15610067, essv15609865, essv15609514, essv15609394, essv15609505, essv15609768, essv15610022, essv15610094, essv15609939, essv15609425, essv15610061, essv15609632, essv15609591, essv15610179, essv15609930, essv15609892, essv15609811, essv15609510, essv15609973, essv15609548, essv15609945, essv15610104, essv15609557, essv15609542, essv15609533, essv15610064, essv15609638, essv15609435, essv15609389, essv15610018, essv15609708, essv15609467, essv15609470, essv15609728, essv15609658, essv15610096, essv15609949, essv15609563, essv15609965, essv15609853, essv15610004, essv15609687, essv15609773, essv15610103, essv15609954, essv15609792, essv15609582, essv15609729, essv15609952, essv15610118, essv15609943, essv15610151, essv15609950, essv15609869, essv15609432, essv15609944, essv15609968, essv15610056, essv15609474, essv15609849, essv15609529, essv15609391, essv15609496, essv15609367, essv15610026, essv15609814, essv15610137, essv15609725, essv15609738, essv15610141, essv15609521, essv15610039, essv15609600, essv15610134, essv15609990, essv15609882, essv15609720, essv15609506, essv15609429, essv15610001, essv15609571, essv15610148, essv15609758, essv15609493, essv15610017, essv15609704, essv15610013, essv15609686, essv15609598, essv15610178, essv15609741, essv15609469, essv15610116, essv15609942, essv15610169, essv15609877, essv15609991, essv15609398, essv15609719, essv15609778, essv15609455, essv15609818, essv15610167, essv15609774, essv15609813, essv15609572, essv15609684, essv15609802, essv15609666, essv15609457, essv15609883, essv15609788, essv15609863, essv15610099, essv15609569, essv15609785, essv15609669, essv15610062, essv15610021, essv15609854, essv15609399, essv15610005, essv15609440, essv15609524, essv15609568, essv15609393, essv15609976, essv15609734, essv15609828, essv15609736, essv15609832, essv15609801, essv15609504, essv15609378, essv15610107, essv15609912, essv15609522, essv15609622, essv15609560, essv15610083, essv15610080, essv15609661, essv15609956, essv15609655, essv15610070, essv15609876, essv15609671, essv15609540, essv15610122, essv15610160, essv15609797, essv15609445, essv15610069, essv15609430, essv15610089, essv15609842, essv15610054, essv15609485, essv15609416, essv15609380, essv15610161, essv15609677, essv15609453, essv15609623, essv15610155, essv15609662, essv15609675, essv15609934, essv15609757, essv15610125, essv15609659, essv15609941, essv15609507, essv15609566, essv15609528, essv15610108, essv15610028, essv15610023, essv15609392, essv15609899, essv15609875, essv15609894, essv15609487, essv15609857, essv15609749, essv15610081, essv15609701, essv15609555, essv15609914, essv15609530, essv15609748, essv15609471, essv15610091, essv15609806, essv15609613, essv15610170, essv15609547, essv15610011, essv15609465, essv15609439, essv15609374, essv15609946, essv15609674, essv15609525, essv15609910, essv15609484, essv15610110, essv15609584, essv15610112, essv15609706, essv15609985, essv15609878, essv15609763, essv15609468, essv15609760, essv15609562, essv15609931, essv15609856, essv15609580, essv15609645, essv15609895, essv15609462, essv15609433, essv15609997, essv15609769, essv15609599, essv15609898, essv15610135, essv15610006, essv15609559, essv15610163, essv15609695, essv15609646, essv15609532, essv15609689, essv15609901, essv15610002, essv15610078, essv15609962, essv15609924, essv15609546, essv15609396, essv15609617, essv15609406
SamplesNA18502, NA20339, HG01850, NA19058, HG02496, HG00608, NA18621, HG03228, NA18947, HG01443, NA19399, HG01031, HG04222, HG03687, HG03175, NA19378, HG03517, HG03717, NA18999, HG02600, NA18878, HG02050, HG03018, HG02382, NA21137, NA19684, NA18530, HG02154, HG01461, HG02356, NA19920, NA20359, NA19067, HG04059, HG03837, HG01873, HG03603, HG03645, NA19379, HG03770, HG00589, NA19315, HG03722, HG02069, HG02156, HG04206, HG02521, NA18993, NA18558, HG03673, NA18547, HG03736, NA18960, NA18574, NA18582, HG03234, NA12762, NA19384, NA20291, HG03917, NA19079, HG01859, HG02131, HG04183, HG03817, NA19720, HG03910, HG00632, HG02634, HG03212, HG03045, HG03947, HG02178, HG01950, NA19036, HG04047, HG03380, HG00406, NA18985, HG03649, HG02409, NA19789, HG02134, HG01565, HG02943, NA18951, NA18605, HG01867, HG03685, NA19070, HG02070, HG04146, HG03907, HG01857, NA19175, HG02380, HG03786, HG02253, HG03771, HG01498, HG02728, HG03159, NA18572, HG01796, NA18981, HG00692, NA18537, HG03301, NA19084, HG00690, HG00404, HG03951, HG02121, HG03446, NA18532, NA19059, HG04063, HG02601, NA19009, NA19682, HG00463, HG01936, NA18531, HG04176, HG02635, HG04093, HG02675, HG01896, HG01811, HG03934, HG02772, HG01858, NA20851, NA20799, NA19729, HG00611, HG03598, NA19652, NA19440, NA18533, HG04216, HG02557, NA21144, HG03539, HG03708, HG02088, NA18628, HG03949, HG02355, HG00580, HG02391, NA19010, NA18865, HG03869, HG03473, HG01798, NA20281, HG02137, HG02188, HG03973, HG03703, HG02133, NA20897, HG00614, HG02379, HG02128, HG00513, HG02373, NA19785, HG03157, HG02401, HG01804, NA19351, HG03849, HG03313, HG02116, HG03716, NA19102, HG01631, NA19770, NA18876, HG02291, HG02182, HG04171, HG02348, HG01914, HG01794, HG00595, HG02353, NA18989, HG03867, HG03985, HG03815, NA18612, NA19429, NA19431, NA18577, HG03864, HG03690, HG00626, NA20874, HG01413, NA19700, HG01795, NA19055, NA18924, HG02272, HG03965, HG01961, HG01348, HG03821, HG04229, HG04194, HG02262, HG02035, HG01586, NA18561, HG01188, HG02150, NA19734, HG03589, HG03015, HG02852, NA18641, NA18603, HG02360, HG04094, HG00699, HG02277, HG02058, NA21115, HG04018, HG04164, HG02394, HG02734, HG03577, HG03172, HG04001, NA18962, HG03950, HG01924, NA19746, HG01341, HG02312, NA18550, HG03796, HG03640, HG03757, HG02407, NA19728, NA18595, HG00689, NA19723, NA18635, HG03937, NA20900, HG02687, HG04144, HG02620, NA19916, HG00458, HG01599, HG00634, NA19131, NA18942, HG01816, HG00610, HG03911, HG04131, HG03479, HG01848, NA19681, HG03762, HG01110, HG03594, HG00590, HG03830, HG03868, HG03209, HG01893, NA18749, HG02493, HG02395, HG00683, HG02490, HG02003, HG01813, NA19719, NA20340, NA18560, HG02885, HG03777, HG01892, NA19087, HG03995, HG03352, NA19002, NA19725, NA18520, HG02946, HG00637, HG03583, HG00530, NA18638, HG00675, HG00464, NA19007, HG03709, HG02402, HG03780, HG00560, NA18613, HG00629, NA19657, HG01360, HG00183, HG00176, NA19082, HG00982, NA19707, NA20787, HG01797, HG03787, HG04062, HG03644, HG02334, HG02582, HG00428, NA19462, HG03760, NA18644, NA19327, NA18991, HG02076, HG00475, HG04162, HG02554, HG02450, HG01810, HG00500, NA21098, HG03756, HG01880, NA18976, HG01948, HG03294, HG02555, HG03123, HG01414, NA19000, HG03824, HG00844, NA19655, NA20859, HG03858, HG02048, HG02008, HG04155, HG01241, NA18946, HG03740, HG04189, NA18853, HG01842, NA19225, NA19756, NA18536, HG02408, HG03940, NA21143, NA19308, NA18978, HG00476, HG03866, HG04219, HG02684, NA18952, NA18543, HG03461, HG01954, HG02501, NA19749, HG04239, NA18950, HG00375, NA19732, HG03689, HG02837, NA20351, HG03433, NA18629, HG03012, NA18591, HG02814, HG04003, HG03019, NA20887, HG02181, HG01801, NA19078, HG00672, HG03039, NA19248, HG04015, HG01917, NA19438, HG03646, NA19472, HG01028, HG02938, HG02396, HG03998, NA19726, HG01883, NA18984, HG01863, HG04161, HG03890, HG00759, HG02808, HG01097, HG02343, HG01583, NA19153, NA20882, HG00542, HG01173, HG00304, HG04096, HG03484, HG02628, NA12842, HG00143, HG02072, HG01462, NA19066, NA21127, NA19204, HG00559, HG02375, HG03753, HG02784, HG01815, HG00766, NA20878, HG02029, HG01066, HG00457, HG02012, HG01806, HG03298, NA20294, HG03926, HG03229, NA18959, HG00449, HG02384, HG00654, NA20356, NA18510, NA18602, NA18969, NA18627, HG03009, HG00663, HG03572, HG00641, HG02621, HG03016, HG02185, HG03943, HG03452, NA19764, HG02952, HG00599, HG03091, HG02146, HG02383, NA18923, NA18567, HG02860, HG03342, NA21108, HG01840, NA20287, HG01372, HG00451, HG02603, HG03887, HG02252, HG01080, NA20518, NA20278, HG02736, HG00113, NA19372, HG03691, HG00534, NA19235, NA18748, HG03814, HG01844, NA18557, HG02260, NA20342, HG02623, HG02780, HG03784, HG02164, NA18645, HG02716, HG00349, HG02820, NA19908, HG03861, HG01171, NA19403, HG02345, HG03990, HG02057, HG04195, HG02775, HG01142, HG01941, NA18579, HG03575, HG01345, HG01077, NA18534, HG03027, HG01889, NA19654, NA18573, HG03730, HG00651, NA20866, NA21124, HG00531, NA20581, HG03713, HG02787, HG01870, HG02657, HG03631, HG02259, HG03643, HG01593, NA19752, HG03953, HG02783, HG02979, HG03046, NA18963, HG03672, HG00864, NA18570, HG02568, HG03064, NA19017, NA18953, HG03238, HG02660, HG02089, NA21117, HG00383, HG04227, NA19149, HG03437, HG00625, HG02010, NA19747, HG01878, HG04186, HG02790, HG03692, NA19090, HG01396, NA21123, NA20362, HG02982, HG00473, HG03469, HG02941, HG02274, NA19783, HG02019, HG02558, NA18501, NA21090, HG03066, HG01868, NA19468, HG01846, HG01302, NA20852, HG01600, NA20758, NA19080, HG03925, NA19780, HG03077, HG00728, NA19900, NA19030, HG02763, HG01807, HG02855, NA19312, HG02778, HG02020, NA18968, NA18623, HG04153, HG04061, HG03955, HG01927, HG01805, HG03166, NA18620, NA18997, HG04198, HG03366, HG03857, NA21097, HG02652, HG02250, HG00361, HG02298, HG03237, HG01855, HG03738, HG04211, HG02337, NA18917, HG04002, HG00640, NA19795, NA18486, NA18545, HG03668, NA19057, NA18596, HG03963, HG01944, HG00566, HG03518, HG03792, HG00879, HG01140, HG03199, HG03095, HG03074, HG01571, HG04100, HG03464, NA19005, NA18944, HG01953, HG03705, HG02810, HG03490, HG01997, NA18982, HG03873, NA20317, NA18619, HG03370, HG03885, HG00851, NA18642, NA19771, NA19088, HG01982, NA18964, HG01393, HG02922, HG02786, HG03079, HG02505, HG02281, HG03803, NA18970, HG03897, HG03189, HG03968, HG02512, NA18977, HG03595, HG03788, NA19731, HG01308, NA19385, HG00422, NA19317, NA18986, HG03693, HG01932, HG04185, HG02502, HG03225, HG02104, HG02180, NA18975, NA18640, HG03114, NA18954, HG03862, HG00260, NA18614, HG02737, NA18544, HG03902, HG03844, HG03785, HG03908, NA18934, HG01871, HG03007, HG02513, HG02025, HG01864, NA18956, NA20895, NA18516, HG00436, HG03428, HG00533, HG01989, HG00598, NA18637, HG01119, NA20767, HG03919, HG02470, HG02757, HG01049, HG02364, HG01073, NA20299, NA19449, HG03136, HG00956, HG04054, HG03660, HG03974, HG02086, HG00525, HG03745, NA19338, HG04152, HG02184, HG01890, HG03755, HG03354, HG00410, NA18634, NA18945, NA18608, NA21113, HG03833, HG03778, HG04188, HG03790, HG02807, HG03809, HG03240, NA18961, HG02799, NA19735, NA19473, HG00357, HG03899, NA19037, NA18941, HG00623, NA18992, HG03488, NA18643, HG03846, HG02685, HG02139, HG04090, NA19085, HG00269, NA19475, HG02398, HG04023, NA20348, NA18971, HG02974, HG03896, HG00421, HG03049, HG02699, HG00656, NA18994, HG02392, HG03022, HG00123, HG03684, HG02679, HG01817, HG00698, NA19096, HG03894, HG02186, NA20886, HG04056, NA18511, HG03698, HG03129, HG02006, NA18622, HG02060
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639894
Frequency
Sample Size2504
Observed Gain0
Observed Loss814
Observed Complex0
Frequencyn/a


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