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 Variantsessv15609662, essv15609680, essv15610020, essv15609520, essv15609968, essv15609933, essv15609577, essv15609805, essv15609892, essv15609425, essv15609560, essv15610143, essv15610056, essv15609669, essv15609779, essv15609660, essv15610009, essv15609836, essv15609834, essv15609865, essv15610013, essv15609460, essv15610159, essv15610018, essv15609755, essv15609927, essv15609781, essv15609422, essv15609833, essv15609739, essv15609468, essv15609921, essv15610094, essv15609979, essv15609392, essv15609766, essv15609421, essv15609823, essv15609869, essv15609623, essv15609502, essv15609784, essv15609379, essv15609703, essv15610174, essv15609827, essv15610155, essv15609449, essv15609704, essv15609640, essv15609962, essv15610048, essv15609826, essv15610141, essv15609751, essv15609673, essv15609492, essv15610063, essv15610049, essv15609658, essv15609523, essv15610066, essv15609943, essv15609534, essv15610011, essv15610125, essv15609415, essv15609575, essv15609601, essv15609975, essv15609705, essv15609732, essv15609426, essv15609947, essv15610055, essv15609591, essv15609709, essv15609965, essv15610147, essv15609582, essv15609671, essv15609916, essv15609707, essv15610097, essv15609648, essv15609829, essv15610074, essv15609515, essv15609939, essv15609423, essv15609641, essv15609645, essv15609819, essv15609924, essv15609406, essv15609417, essv15609478, essv15609619, essv15609993, essv15609490, essv15609897, essv15609532, essv15609542, essv15609929, essv15609782, essv15609442, essv15610098, essv15610127, essv15609978, essv15610175, essv15609762, essv15609587, essv15609396, essv15609482, essv15609666, essv15609452, essv15610077, essv15609507, essv15609626, essv15609511, essv15609717, essv15609763, essv15609543, essv15610109, essv15609957, essv15610118, essv15610003, essv15609903, essv15609390, essv15609692, essv15609740, essv15609985, essv15609845, essv15609719, essv15610014, essv15609814, essv15609899, essv15610167, essv15610148, essv15609643, essv15609594, essv15610039, essv15609860, essv15609884, essv15609631, essv15610136, essv15609544, essv15609684, essv15610120, essv15609489, essv15609677, essv15609461, essv15609723, essv15609790, essv15610044, essv15610117, essv15609371, essv15609402, essv15610121, essv15609994, essv15609494, essv15609738, essv15610168, essv15609999, essv15610099, essv15609458, essv15609877, essv15609925, essv15609986, essv15609485, essv15610037, essv15609948, essv15609676, essv15609672, essv15609419, essv15609583, essv15609758, essv15610076, essv15610173, essv15609451, essv15609743, essv15609562, essv15609938, essv15609620, essv15610149, essv15609721, essv15609792, essv15609787, essv15610082, essv15609412, essv15609747, essv15609376, essv15609746, essv15609597, essv15609595, essv15609488, essv15609674, essv15609493, essv15609720, essv15609908, essv15609540, essv15609391, essv15609917, essv15609646, essv15609463, essv15609881, essv15610108, essv15609553, essv15609664, essv15609963, essv15609630, essv15609629, essv15609386, essv15609394, essv15609798, essv15610010, essv15609627, essv15609800, essv15609486, essv15609853, essv15609409, essv15610038, essv15610061, essv15610087, essv15609624, essv15610078, essv15610089, essv15609945, essv15609605, essv15609546, essv15610071, essv15610088, essv15609808, essv15609457, essv15609932, essv15610101, essv15609565, essv15609462, essv15609681, essv15609789, essv15609841, essv15610001, essv15609654, essv15609905, essv15610140, essv15610177, essv15609701, essv15609414, essv15609750, essv15609788, essv15610040, essv15609525, essv15610158, essv15609972, essv15609551, essv15609816, essv15609761, essv15610007, essv15609635, essv15609688, essv15609909, essv15609847, essv15609599, essv15609813, essv15609416, essv15609864, essv15610102, essv15610161, essv15609844, essv15609901, essv15609431, essv15609454, essv15609981, essv15609734, essv15609799, essv15610165, essv15609377, essv15609632, essv15610123, essv15609508, essv15610110, essv15609563, essv15609875, essv15609728, essv15610172, essv15609812, essv15609725, essv15609608, essv15609695, essv15609906, essv15609572, essv15609879, essv15609586, essv15609499, essv15609634, essv15609765, essv15610030, essv15609413, essv15609564, essv15609868, essv15609504, essv15609769, essv15609700, essv15609652, essv15609529, essv15609675, essv15609956, essv15609622, essv15609385, essv15609670, essv15610027, essv15610092, essv15609548, essv15609596, essv15609854, essv15610069, essv15609522, essv15609580, essv15609466, essv15609474, essv15609955, essv15609369, essv15609636, essv15609434, essv15609883, essv15609966, essv15609475, essv15609759, essv15609729, essv15610067, essv15609428, essv15609918, essv15610070, essv15610057, essv15609404, essv15609593, essv15609647, essv15609584, essv15609639, essv15609980, essv15609405, essv15609754, essv15610133, essv15609820, essv15610164, essv15610176, essv15609567, essv15609896, essv15610085, essv15609550, essv15609778, essv15609592, essv15609403, essv15609570, essv15609444, essv15609381, essv15609537, essv15609811, essv15609872, essv15610054, essv15609411, essv15609558, essv15609609, essv15609638, essv15609378, essv15609718, essv15610104, essv15609824, essv15609867, essv15609554, essv15609752, essv15610068, essv15609479, essv15609644, essv15609889, essv15609745, essv15610095, essv15609430, essv15609372, essv15609571, essv15609842, essv15609951, essv15610107, essv15609855, essv15610091, essv15610160, essv15609656, essv15609722, essv15609891, essv15609650, essv15609731, essv15609857, essv15609367, essv15609610, essv15610024, essv15609389, essv15609772, essv15609876, essv15610145, essv15610034, essv15610142, essv15610170, essv15610090, essv15610166, essv15609682, essv15609678, essv15609495, essv15609616, essv15609821, essv15609810, essv15609663, essv15609907, essv15609768, essv15610019, essv15610126, essv15609498, essv15609607, essv15609911, essv15609556, essv15609398, essv15610058, essv15610105, essv15609885, essv15609447, essv15609491, essv15610113, essv15609613, essv15609825, essv15610086, essv15609617, essv15610035, essv15609433, essv15609579, essv15609954, essv15609435, essv15609803, essv15609818, essv15610073, essv15609904, essv15609912, essv15609937, essv15609771, essv15609527, essv15609757, essv15609730, essv15609753, essv15610023, essv15609483, essv15609679, essv15609387, essv15610079, essv15609953, essv15609849, essv15609923, essv15610047, essv15609375, essv15609436, essv15609767, essv15609893, essv15610179, essv15609469, essv15609519, essv15609848, essv15610000, essv15610096, essv15609920, essv15609870, essv15610132, essv15609487, essv15609604, essv15609712, essv15609756, essv15609851, essv15610064, essv15609388, essv15609476, essv15609942, essv15609569, essv15610124, essv15609407, essv15609791, essv15609895, essv15609698, essv15609930, essv15609524, essv15609866, essv15610115, essv15609393, essv15609934, essv15610114, essv15609399, essv15609443, essv15610129, essv15609831, essv15609614, essv15609408, essv15609531, essv15609998, essv15609470, essv15609642, essv15609606, essv15609655, essv15609815, essv15609828, essv15609418, essv15609890, essv15609602, essv15609691, essv15610081, essv15609796, essv15609400, essv15609919, essv15610083, essv15610093, essv15610017, essv15609702, essv15609555, essv15609922, essv15609438, essv15609665, essv15609744, essv15610106, essv15609871, essv15609961, essv15610119, essv15609699, essv15610041, essv15609424, essv15609936, essv15610151, essv15610004, essv15609685, essv15609852, essv15609910, essv15610025, essv15609427, essv15609541, essv15609760, essv15609653, essv15609432, essv15609661, essv15609736, essv15609996, essv15610045, essv15610016, essv15609649, essv15610152, essv15609856, essv15609801, essv15610050, essv15609539, essv15610012, essv15609637, essv15609874, essv15609882, essv15609441, essv15609506, essv15610052, essv15610112, essv15609526, essv15609742, essv15609420, essv15609465, essv15609547, essv15609708, essv15609568, essv15609940, essv15610111, essv15609446, essv15609689, essv15609983, essv15609989, essv15609697, essv15609926, essv15609603, essv15610043, essv15609481, essv15609509, essv15609373, essv15609368, essv15609651, essv15609711, essv15609830, essv15610100, essv15609693, essv15610026, essv15610053, essv15609776, essv15609952, essv15610042, essv15609735, essv15609982, essv15609786, essv15609715, essv15609976, essv15609931, essv15609970, essv15609706, essv15609588, essv15609775, essv15609858, essv15610022, essv15609859, essv15609659, essv15609440, essv15609804, essv15609793, essv15609949, essv15609971, essv15609517, essv15610032, essv15610065, essv15609822, essv15610178, essv15609559, essv15609995, essv15609809, essv15609862, essv15609552, essv15609774, essv15610006, essv15609783, essv15609383, essv15609959, essv15609380, essv15610084, essv15609472, essv15610116, essv15610163, essv15609795, essv15609733, essv15609915, essv15609536, essv15609533, essv15609514, essv15610029, essv15609683, essv15609794, essv15609467, essv15609374, essv15609549, essv15609528, essv15609395, essv15610134, essv15609964, essv15609667, essv15610033, essv15610130, essv15609967, essv15609726, essv15610103, essv15609861, essv15610180, essv15609960, essv15609944, essv15609913, essv15609581, essv15610005, essv15609445, essv15609950, essv15610137, essv15609838, essv15609987, essv15609973, essv15609764, essv15609946, essv15609797, essv15610046, essv15609618, essv15609941, essv15609992, essv15609464, essv15609585, essv15610156, essv15609477, essv15609516, essv15609902, essv15609958, essv15609780, essv15609505, essv15609589, essv15609510, essv15609770, essv15610144, essv15609839, essv15609977, essv15609566, essv15610060, essv15609888, essv15609713, essv15609530, essv15610031, essv15609521, essv15609590, essv15609453, essv15609887, essv15609538, essv15610002, essv15609724, essv15610059, essv15609749, essv15609501, essv15609974, essv15609710, essv15610128, essv15609832, essv15609384, essv15609806, essv15609456, essv15609668, essv15609561, essv15609727, essv15609573, essv15609880, essv15610171, essv15609625, essv15609873, essv15609694, essv15610072, essv15609455, essv15609716, essv15609439, essv15609785, essv15609600, essv15609690, essv15609574, essv15609611, essv15610139, essv15609628, essv15609773, essv15609633, essv15609748, essv15609657, essv15609863, essv15609448, essv15609621, essv15609612, essv15609837, essv15609471, essv15609935, essv15610080, essv15610062, essv15610162, essv15609714, essv15610146, essv15609807, essv15610122, essv15610135, essv15609997, essv15609886, essv15609990, essv15610036, essv15609545, essv15609696, essv15609802, essv15609576, essv15609900, essv15609615, essv15609397, essv15609835, essv15609741, essv15609496, essv15609518, essv15609984, essv15610150, essv15609500, essv15610021, essv15609817, essv15609878, essv15609850, essv15610154, essv15609370, essv15609894, essv15609687, essv15609513, essv15609991, essv15609914, essv15609846, essv15609401, essv15610153, essv15609484, essv15609410, essv15609437, essv15609382, essv15609480, essv15610131, essv15609450, essv15609557, essv15610157, essv15610028, essv15610138, essv15610015, essv15609578, essv15609737, essv15609429, essv15609840, essv15609988, essv15610169, essv15609497, essv15610051, essv15610075, essv15609473, essv15609843, essv15609598, essv15609898, essv15609503, essv15609535, essv15609459, essv15609928, essv15609777, essv15609512, essv15609969, essv15609686, essv15610008
SamplesHG02470, NA18642, HG01878, HG00864, NA19248, HG03858, NA19312, HG03598, HG03015, HG03705, NA20351, HG02675, HG03646, HG03064, NA18951, HG01811, HG02736, HG01896, HG02298, NA18530, HG03631, HG01941, HG00500, NA20851, HG00464, HG02334, HG02060, HG00632, HG02088, HG02139, HG02450, HG00463, HG03452, HG03896, HG04056, NA18516, HG01850, HG01816, HG04229, NA18953, HG03469, NA21124, HG00428, NA18947, HG04186, HG00542, NA20362, NA18865, HG02029, HG02375, HG00683, HG00404, HG02277, HG04002, HG04094, HG02685, HG03380, HG03199, HG03796, HG02150, HG02355, HG04023, HG01936, HG04152, HG03039, NA19472, NA18950, NA19037, HG02133, HG03817, NA21090, HG02775, HG03461, HG03575, HG04144, NA18627, HG03484, HG00421, HG00349, HG02394, HG00406, NA18635, HG03953, HG02568, NA18623, HG04198, HG03770, NA19088, NA19096, NA18956, NA19429, NA18959, HG00533, NA18637, HG02521, HG04222, HG03603, HG04063, HG02380, HG03114, NA19728, HG02076, NA19000, NA19055, HG01443, HG02392, HG00844, HG03757, NA19725, HG02814, HG03786, HG01097, NA18640, NA19372, NA20291, HG03792, HG04161, HG03660, HG03673, NA19102, HG02922, HG02337, HG02786, NA18510, NA19002, HG02807, HG02558, NA20878, HG03788, NA18878, HG02852, HG03645, HG00534, HG02364, HG00525, HG01805, HG04093, HG01341, HG03228, HG03692, HG03713, HG01077, HG01565, NA18619, NA19723, HG03009, HG01345, HG02070, HG02154, HG03045, HG03990, NA19009, HG03716, HG02181, HG03925, HG02035, HG03172, HG02628, NA20287, HG03815, HG00654, HG02687, HG01804, NA18944, NA20886, HG02089, NA18924, NA19752, NA20758, HG01119, HG00566, HG03830, HG03908, HG01498, HG00625, HG01842, HG00183, HG00626, HG04171, HG02505, HG01807, HG01932, HG03907, NA19385, HG02855, HG02396, HG02512, HG03095, HG01864, HG03370, HG04131, NA20281, HG02057, HG03821, NA18964, HG03785, HG00304, HG02398, NA20278, HG02184, NA20859, HG01817, HG03985, HG01302, NA20866, NA18952, NA18975, HG01873, HG02407, NA18612, HG02600, HG01858, HG03693, HG00449, NA19090, NA19149, HG02734, NA18550, NA20299, NA20294, HG03301, HG03313, HG02979, HG02943, HG02260, NA19317, HG02974, HG02048, HG02952, HG03709, NA18591, HG03046, HG03894, NA18969, HG03212, HG02885, NA19010, HG00375, HG04183, NA19338, NA20342, HG01883, HG02652, HG03973, NA18573, NA18608, HG01049, HG03234, HG02379, NA21098, HG02020, HG02146, HG01954, NA20900, HG03294, HG04216, HG01188, NA19017, HG02790, HG01461, HG02156, HG03019, HG00651, HG01571, HG03229, HG01961, NA20895, HG04100, HG01848, HG01871, NA19084, HG02778, HG03488, NA19780, HG01348, HG03947, HG03572, HG01950, NA19308, HG04061, HG03159, HG03687, NA19438, HG03756, NA19654, HG02003, HG03690, HG03846, HG01924, HG02008, NA19726, HG04219, HG01982, NA19067, HG02360, HG02684, NA18934, HG01140, HG03910, NA21108, HG02137, HG02634, HG03736, NA18992, NA21137, HG03672, NA19059, HG01796, NA20356, NA19652, HG01028, HG01414, NA19057, HG02121, HG02716, NA18960, HG02050, NA19900, NA18644, HG00610, HG03867, NA21127, HG03899, NA12762, NA18991, HG00689, HG02373, HG03911, NA18531, HG01815, HG03862, HG04194, HG01795, HG03844, NA18638, NA18876, NA19351, NA19440, NA19066, HG01396, HG02763, HG03965, NA20882, HG03583, NA18547, HG01997, HG03539, NA18976, HG02356, HG03027, HG03917, HG00637, NA18982, NA19681, HG03864, HG00982, HG03166, NA21144, HG03595, HG00357, HG04227, NA18634, NA18643, HG01599, HG03685, HG04185, NA18970, NA19684, NA21115, HG01797, HG02941, HG00436, HG02058, HG02603, HG04059, HG03225, HG01948, HG03902, HG02131, NA19153, HG02490, NA19785, NA21143, NA18537, NA18620, HG02383, NA18645, HG02019, HG01413, HG03998, HG01308, NA18572, NA18954, HG01066, HG03209, NA20767, HG01989, HG02178, HG03995, HG00629, HG01806, HG03753, NA18923, NA18486, HG00559, HG01914, HG03919, HG03649, HG00260, NA18502, NA19657, HG00560, NA19731, HG01073, NA18558, NA18977, NA18941, HG04239, NA18749, HG02401, HG03849, HG04062, HG03974, HG02343, HG03740, HG03873, NA18748, NA19175, HG02787, NA18942, HG01889, HG03518, HG02780, NA18613, HG00513, HG03428, NA18997, HG02384, HG02502, HG03157, HG03433, NA19707, NA19131, HG03738, NA18579, NA18985, HG02180, HG02395, NA19462, HG00589, HG03943, NA18945, HG01880, HG02582, HG03175, HG00410, HG02345, HG03352, NA18543, NA18582, NA18999, NA20581, HG03446, HG00590, HG00595, HG03237, HG04155, HG01393, HG02635, NA18567, NA19078, HG00611, HG03745, HG03790, HG02182, HG04047, NA20799, NA19403, HG01586, HG01953, HG03866, NA19764, HG02134, HG00663, HG03644, NA18560, NA18989, HG00580, NA19719, NA18971, NA18602, HG02186, HG02262, NA18577, HG03594, NA18533, HG03240, NA18946, NA19770, NA19749, HG02837, HG03890, NA19327, NA21117, NA18917, HG01593, NA19399, HG00656, HG02679, NA12842, NA19655, HG03809, HG00422, HG03857, HG02409, NA19916, HG01855, NA19070, HG02353, NA18984, HG03814, HG03016, HG04189, HG01892, HG04054, NA18532, NA18574, NA18853, HG03012, HG01462, NA19079, NA19473, HG01631, HG02391, HG03837, HG00143, HG01110, HG02784, HG03517, HG00476, HG01857, NA19468, HG02493, HG03730, HG04195, NA19007, HG03490, HG01863, HG02820, HG03824, HG03950, NA19058, NA20339, HG00361, HG01870, HG03136, HG02808, HG03755, NA18621, HG02496, HG03968, NA19030, HG02250, HG02291, HG02657, HG03354, NA18605, NA20787, HG02810, HG03760, NA18520, NA18595, HG03861, HG03668, NA19734, HG02272, NA18534, HG03784, NA21113, HG03479, HG00956, HG03762, HG03940, HG02164, HG01173, HG01859, HG03868, NA18501, HG03129, HG02601, HG00457, HG04096, HG01927, NA18545, NA18603, HG01031, HG03189, HG00614, HG02783, HG04090, HG02104, NA19795, HG00475, HG02946, NA19449, HG02010, NA19920, HG03298, NA19379, HG00698, HG02660, NA18994, NA20897, NA18963, HG01844, NA19378, HG02274, HG04001, HG03951, HG04176, HG03833, NA19682, HG00113, HG01142, HG03949, HG00699, NA18557, HG01171, HG01840, NA18596, NA18628, HG03049, NA20340, HG00269, HG03803, HG03897, HG02982, HG01917, HG02259, HG02402, HG02312, HG03955, NA19085, HG04206, HG02699, HG04188, NA19735, NA21097, NA18536, HG04164, NA18622, HG02554, HG00759, HG01583, HG04153, NA18641, HG00728, HG02772, HG00692, HG02012, HG03717, HG03926, HG03787, HG02557, NA19908, HG03007, HG03464, HG01360, HG02348, HG00451, HG01867, HG03887, HG00634, HG03079, NA19036, NA19700, NA19082, HG03722, HG02737, HG02757, HG03780, HG03869, HG01810, NA19080, HG01600, NA19771, HG02185, HG02382, HG00640, NA20348, HG00766, NA19384, HG03473, HG00383, NA18968, NA18986, NA19005, NA20852, HG00851, HG00176, HG02623, HG03934, HG00672, HG02501, HG02069, HG02938, NA18978, NA18961, HG03366, HG01080, HG03778, NA19720, HG04162, HG00458, HG00599, HG03022, HG02072, HG03577, NA19789, NA19235, HG02281, HG03691, NA19729, HG02128, HG03589, HG01801, HG03238, NA20518, HG03771, NA19431, HG01893, NA19747, NA18544, HG03018, HG00608, NA18614, NA19475, HG02252, HG03123, HG03708, HG00530, HG04018, NA20317, HG00123, NA19225, HG02408, HG03074, NA19732, NA20359, HG03077, HG03640, HG00623, NA19315, NA19756, HG00690, HG02728, HG04015, HG00641, NA19204, HG00473, NA18981, HG00598, HG02555, HG02620, HG03885, HG02188, NA19087, HG01890, HG02860, HG03777, NA19746, HG00531, NA18629, HG02253, HG03091, HG03689, HG03937, NA18962, HG03684, HG01372, HG01868, NA20887, HG03963, HG01813, HG03698, HG04146, NA20874, HG01798, HG01241, HG01846, HG02621, HG02116, HG04003, NA18561, HG02025, HG03342, HG02086, HG03703, NA21123, HG00675, HG03437, HG02799, NA19783, HG01944, HG00879, HG03066, HG01794, HG02513, NA18570, NA18511, HG04211, HG02006, NA18993, HG03643
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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