A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638686



Internal ID7025471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55764978..55788511hg38UCSC Ensembl
chr16:55798890..55822423hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3823534
hg1923534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15482124, essv15481810, essv15482296, essv15481515, essv15481658, essv15481779, essv15482204, essv15481940, essv15481791, essv15481660, essv15482056, essv15481880, essv15481561, essv15481520, essv15481716, essv15482235, essv15481516, essv15482255, essv15481861, essv15481648, essv15481567, essv15481468, essv15481838, essv15481484, essv15482102, essv15481795, essv15481733, essv15482240, essv15482140, essv15482276, essv15481958, essv15481470, essv15481493, essv15481702, essv15481943, essv15481839, essv15481722, essv15481612, essv15481730, essv15482036, essv15481798, essv15481778, essv15481651, essv15482128, essv15482076, essv15481928, essv15481803, essv15481930, essv15482092, essv15482301, essv15482008, essv15481840, essv15482233, essv15482121, essv15482031, essv15481934, essv15481481, essv15481999, essv15481832, essv15481601, essv15481584, essv15482303, essv15482218, essv15481540, essv15481783, essv15482262, essv15482142, essv15481884, essv15482295, essv15481518, essv15481571, essv15482019, essv15481739, essv15481533, essv15481952, essv15481579, essv15481543, essv15481755, essv15481741, essv15481531, essv15481747, essv15481608, essv15482268, essv15482280, essv15481826, essv15482250, essv15482112, essv15481994, essv15481560, essv15481932, essv15481895, essv15481657, essv15481554, essv15481691, essv15482244, essv15481521, essv15481465, essv15481883, essv15482139, essv15481758, essv15482007, essv15481971, essv15481581, essv15481498, essv15482263, essv15481941, essv15481766, essv15482162, essv15482026, essv15481731, essv15481527, essv15481759, essv15482068, essv15481506, essv15481749, essv15481471, essv15482062, essv15481726, essv15481979, essv15481788, essv15482088, essv15481461, essv15482151, essv15482115, essv15481607, essv15481992, essv15481976, essv15482150, essv15481655, essv15481921, essv15481464, essv15482071, essv15482005, essv15481775, essv15482185, essv15482066, essv15481600, essv15481489, essv15482001, essv15482286, essv15481736, essv15481711, essv15481984, essv15482045, essv15482039, essv15481965, essv15482081, essv15481713, essv15481929, essv15481624, essv15482298, essv15482011, essv15481797, essv15481656, essv15482211, essv15482163, essv15482270, essv15482108, essv15481827, essv15481961, essv15481831, essv15481708, essv15482297, essv15482241, essv15481652, essv15481717, essv15481512, essv15482144, essv15481847, essv15481728, essv15482087, essv15481844, essv15481865, essv15481548, essv15482274, essv15481629, essv15481962, essv15481770, essv15482096, essv15482075, essv15481767, essv15482077, essv15481699, essv15481526, essv15481781, essv15481596, essv15481603, essv15481953, essv15482120, essv15482012, essv15482180, essv15481546, essv15481522, essv15482114, essv15482024, essv15481816, essv15481566, essv15481774, essv15481623, essv15482069, essv15482028, essv15481877, essv15482197, essv15482184, essv15482014, essv15481837, essv15481476, essv15481990, essv15482256, essv15481988, essv15481555, essv15481920, essv15482215, essv15481757, essv15481700, essv15482182, essv15482118, essv15481725, essv15482107, essv15481951, essv15482164, essv15481474, essv15482123, essv15481753, essv15481863, essv15481693, essv15481793, essv15481485, essv15481936, essv15482015, essv15481811, essv15482228, essv15481627, essv15481585, essv15481619, essv15482049, essv15482257, essv15482186, essv15482131, essv15481667, essv15482271, essv15482261, essv15481966, essv15481891, essv15481760, essv15481588, essv15482294, essv15481649, essv15481491, essv15482239, essv15481938, essv15481602, essv15481511, essv15481668, essv15481684, essv15482217, essv15482133, essv15482127, essv15481927, essv15482050, essv15482119, essv15481709, essv15482173, essv15482249, essv15481673, essv15482247, essv15482238, essv15482193, essv15481669, essv15481872, essv15481682, essv15482168, essv15482091, essv15482188, essv15481787, essv15482225, essv15482172, essv15481784, essv15481532, essv15481706, essv15481625, essv15481478, essv15481881, essv15481925, essv15481565, essv15482202, essv15481665, essv15481799, essv15481635, essv15481640, essv15481894, essv15482176, essv15481525, essv15481945, essv15482289, essv15481490, essv15481801, essv15481482, essv15482237, essv15481887, essv15481805, essv15482253, essv15482160, essv15482224, essv15482040, essv15481536, essv15481981, essv15481776, essv15481582, essv15481670, essv15481563, essv15482284, essv15481477, essv15481983, essv15481856, essv15482052, essv15482183, essv15482221, essv15481573, essv15481501, essv15482148, essv15482191, essv15482106, essv15481857, essv15482273, essv15481888, essv15482229, essv15481475, essv15481542, essv15482291, essv15481802, essv15481876, essv15481564, essv15481841, essv15481460, essv15481969, essv15482194, essv15481879, essv15481687, essv15482201, essv15482278, essv15481890, essv15481762, essv15481703, essv15481557, essv15482064, essv15481905, essv15482109, essv15482072, essv15481849, essv15482236, essv15482063, essv15481764, essv15481486, essv15482029, essv15482134, essv15481957, essv15481869, essv15482222, essv15481809, essv15481897, essv15482080, essv15482073, essv15481912, essv15481622, essv15481963, essv15482226, essv15481789, essv15481761, essv15481743, essv15481814, essv15481792, essv15481701, essv15481605, essv15481964, essv15482292, essv15481859, essv15481885, essv15482116, essv15482279, essv15482159, essv15481572, essv15482153, essv15481636, essv15481524, essv15481523, essv15481580, essv15482145, essv15482208, essv15481680, essv15481777, essv15482095, essv15481855, essv15481671, essv15481718, essv15482135, essv15482003, essv15482210, essv15482113, essv15481659, essv15481915, essv15482157, essv15481823, essv15481499, essv15481705, essv15482293, essv15481641, essv15482282, essv15481878, essv15482023, essv15481634, essv15481850, essv15482051, essv15482155, essv15482269, essv15482083, essv15481873, essv15481723, essv15481466, essv15481621, essv15482137, essv15481977, essv15481576, essv15482216, essv15482104, essv15482178, essv15481836, essv15481982, essv15481935, essv15481724, essv15481821, essv15481488, essv15482094, essv15481592, essv15482259, essv15481517, essv15482089, essv15481871, essv15481610, essv15481973, essv15481980, essv15482147, essv15481653, essv15482245, essv15481947, essv15481898, essv15481773, essv15482067, essv15482058, essv15481617, essv15481707, essv15481611, essv15481754, essv15482090, essv15481694, essv15482030, essv15481949, essv15481704, essv15481609, essv15481529, essv15482246, essv15481587, essv15481875, essv15481710, essv15482033, essv15482125, essv15482078, essv15481599, essv15481675, essv15482299, essv15482205, essv15481820, essv15482209, essv15482021, essv15481654, essv15481604, essv15481913, essv15482281, essv15482082, essv15481852, essv15481487, essv15482275, essv15482065, essv15481804, essv15481574, essv15482025, essv15481549, essv15482196, essv15482192, essv15482132, essv15481972, essv15481968, essv15482300, essv15482219, essv15482035, essv15482251, essv15482105, essv15481944, essv15482198, essv15481830, essv15481851, essv15481744, essv15481467, essv15481824, essv15481631, essv15481899, essv15481650, essv15481914, essv15481616, essv15482097, essv15482079, essv15481551, essv15481538, essv15481916, essv15482288, essv15482223, essv15481613, essv15481620, essv15482169, essv15481639, essv15482117, essv15481954, essv15481860, essv15481606, essv15482041, essv15481642, essv15481738, essv15481570, essv15481750, essv15481672, essv15481550, essv15481497, essv15481987, essv15481763, essv15481996, essv15481828, essv15482016, essv15481698, essv15481765, essv15482099, essv15481866, essv15481597, essv15482212, essv15481647, essv15481646, essv15482171, essv15481995, essv15481633, essv15481719, essv15482060, essv15481780, essv15482037, essv15481553, essv15482252, essv15481677, essv15481664, essv15481544, essv15482018, essv15481939, essv15481864, essv15481637, essv15481946, essv15481833, essv15482232, essv15481735, essv15482017, essv15481858, essv15482004, essv15481638, essv15481502, essv15481790, essv15481583, essv15481893, essv15481748, essv15481742, essv15482141, essv15481892, essv15481769, essv15482143, essv15481886, essv15481495, essv15482010, essv15481997, essv15481906, essv15481956, essv15481854, essv15481842, essv15481681, essv15481732, essv15481737, essv15481630, essv15481644, essv15482158, essv15481740, essv15481463, essv15481818, essv15481813, essv15481901, essv15482027, essv15481734, essv15482200, essv15482098, essv15481955, essv15481975, essv15482146, essv15481822, essv15482000, essv15481721, essv15482101, essv15481768, essv15481632, essv15481530, essv15481835, essv15481598, essv15481666, essv15482044, essv15481535, essv15481663, essv15482181, essv15481902, essv15482190, essv15481469, essv15482043, essv15482057, essv15481661, essv15482207, essv15482126, essv15482022, essv15481812, essv15482302, essv15482138, essv15481985, essv15482174, essv15481867, essv15482265, essv15482013, essv15481473, essv15481577, essv15481978, essv15482290, essv15481745, essv15481896, essv15481692, essv15482287, essv15481889, essv15481578, essv15482179, essv15481846, essv15481537, essv15482285, essv15481807, essv15482110, essv15482006, essv15481819, essv15482136, essv15482199, essv15481715, essv15481882, essv15481900, essv15482002, essv15481674, essv15482220, essv15482042, essv15481562, essv15482203, essv15481683, essv15481676, essv15481696, essv15481933, essv15481756, essv15481459, essv15481922, essv15481575, essv15482111, essv15481862, essv15481727, essv15482074, essv15481541, essv15481808, essv15481514, essv15481589, essv15482248, essv15482122, essv15481593, essv15482267, essv15482061, essv15481595, essv15481771, essv15482177, essv15481678, essv15481729, essv15481479, essv15481559, essv15481504, essv15482187, essv15481937, essv15481686, essv15481923, essv15481472, essv15482161, essv15482166, essv15482047, essv15482130, essv15482100, essv15482189, essv15481528, essv15481903, essv15481794, essv15482129, essv15481907, essv15481868, essv15482231, essv15481492, essv15481806, essv15482258, essv15481594, essv15481556, essv15481931, essv15482149, essv15481829, essv15482053, essv15481480, essv15482156, essv15481989, essv15481586, essv15481618, essv15481967, essv15481503, essv15482264, essv15481800, essv15482234, essv15481815, essv15482152, essv15482170, essv15481679, essv15481643, essv15482254, essv15482059, essv15481558, essv15481569, essv15481568, essv15481919, essv15481853, essv15481986, essv15481959, essv15482034, essv15482084, essv15482054, essv15481746, essv15481689, essv15481626, essv15482243, essv15482086, essv15481845, essv15481950, essv15481785, essv15482230, essv15482009, essv15481505, essv15482020, essv15481782, essv15481513, essv15481615, essv15481910, essv15481796, essv15482206, essv15482165, essv15481942, essv15481998, essv15482266, essv15481817, essv15481720, essv15482277, essv15481948, essv15482055, essv15482048, essv15482085, essv15481509, essv15481926, essv15481874, essv15481591, essv15482214, essv15481752, essv15482242, essv15481662, essv15481870, essv15481685, essv15481695, essv15481507, essv15481960, essv15482154, essv15481848, essv15481545, essv15481917, essv15481909, essv15481712, essv15482103, essv15481993, essv15481991, essv15481825, essv15481714, essv15481519, essv15481539, essv15481462, essv15481510, essv15481500, essv15481911, essv15482046, essv15481628, essv15481614, essv15481552, essv15481494, essv15482175, essv15481772, essv15481547, essv15481751, essv15482260, essv15482283, essv15482038, essv15481974, essv15481496, essv15482272, essv15482195, essv15481590, essv15482093, essv15481843, essv15481688, essv15481970, essv15481534, essv15481918, essv15481508, essv15482032, essv15482167, essv15481924, essv15482213, essv15481786, essv15481483, essv15481690, essv15481834, essv15481645, essv15482070, essv15481904, essv15482227, essv15481908, essv15481697
SamplesNA20588, HG03593, HG01850, HG00650, HG00442, NA19058, NA18621, NA18947, NA19664, HG01031, NA21099, HG03687, HG01602, NA21100, NA11920, HG02661, HG02231, HG02419, NA18999, HG04076, HG00729, HG03616, NA19684, HG02040, NA20863, HG02688, HG02154, NA12750, NA19067, HG00717, HG01873, HG03603, HG01506, HG01350, HG00356, HG03770, HG00589, HG03722, HG02069, NA20798, NA18995, HG02140, NA19678, HG01676, NA20756, NA20911, NA18993, NA18547, HG03736, NA18960, NA18618, NA18574, NA07048, HG03874, HG02299, NA12762, HG01063, HG01365, HG00537, HG00311, NA19079, NA18949, HG01859, HG00158, HG00281, HG04183, NA19720, HG00632, HG02389, HG01849, HG02082, HG03947, HG02178, HG01950, NA21129, HG03649, HG03585, HG00323, HG01967, NA19789, HG01851, HG01565, HG00137, NA12777, HG03697, NA12760, HG01847, HG01867, NA19070, NA19056, HG01122, HG02070, HG04146, HG03718, HG03907, HG04039, HG02142, HG01684, HG01095, HG00657, HG01879, NA19717, HG02084, HG02731, HG03711, HG03491, HG01845, NA19081, HG03900, HG03771, HG01498, HG03775, NA20519, NA18572, HG01796, HG04177, NA12234, HG01630, NA19064, NA18537, HG01102, HG03829, NA20901, NA19084, HG00404, HG03951, HG02121, HG03446, HG02141, NA18532, HG04063, HG02601, HG02286, HG00463, HG01936, NA18531, HG04118, HG01988, NA19625, NA18593, HG01107, HG01811, HG03934, HG01858, HG00611, HG04025, NA19652, HG03848, NA18533, HG04216, NA18517, NA18564, HG03708, HG02088, NA18628, HG03949, HG00580, NA20870, HG03117, HG01874, HG02391, NA20520, NA19010, HG01174, HG02232, HG01866, HG03869, HG00116, NA18943, HG02188, NA20888, HG03729, HG01861, HG01785, HG00614, HG02700, HG02128, HG00513, HG02373, HG00478, NA18631, HG00381, HG02367, HG01804, HG03849, HG02079, HG02116, HG01799, NA18609, HG03716, HG02291, HG04171, HG02348, HG00595, HG02947, NA18989, NA19011, HG02351, NA19065, HG03985, HG01776, NA11832, NA20772, HG03989, HG00593, HG00096, NA18998, HG03812, HG01060, HG01746, HG01441, NA19648, NA19700, HG00592, NA19055, HG03652, HG03965, NA19466, NA11995, HG03731, HG01961, NA18592, HG03821, HG04229, NA20899, NA18980, HG02262, HG02035, HG01586, NA18561, HG02150, NA19734, HG03015, HG02275, HG01374, NA18641, HG02061, NA18603, HG02360, HG00452, HG03772, HG04018, NA18625, NA20346, HG02734, HG03172, NA12400, HG02285, NA18962, HG03950, HG01924, HG01500, HG02312, HG00109, HG03706, NA20861, HG03757, HG02407, NA19728, HG01064, HG02087, HG00173, NA18635, NA19916, HG01459, HG00458, HG01710, HG01599, NA18942, HG01816, HG00610, NA19649, HG02374, NA20540, HG04131, HG01848, NA19681, HG03762, HG00590, HG03830, HG03851, NA18749, NA12005, HG02493, HG02395, HG00683, HG02490, HG01813, NA18560, HG03746, HG01046, NA19075, NA18617, HG03624, HG03777, HG01176, NA19087, HG00182, HG02138, HG00338, HG03055, NA18973, NA18638, NA21122, HG00464, HG01524, HG00543, HG01784, HG03780, HG02166, HG00560, NA18613, HG00629, HG02136, NA19082, HG00982, HG03644, HG02697, HG02236, HG02090, HG00428, NA18644, NA20536, NA18991, HG02076, HG00475, HG01612, HG00500, NA21118, HG03756, NA18976, HG01948, HG02789, HG01392, HG01414, NA19000, HG03824, HG00844, NA20859, HG02494, HG02008, NA18946, HG03625, HG04189, HG02283, HG03854, HG01705, HG02725, HG01708, NA06985, HG01403, NA19756, NA18536, NA20542, HG00445, NA18646, HG01700, NA21143, HG01363, NA18978, HG00476, HG02684, HG00119, NA18535, HG01954, HG00742, HG00565, HG04239, NA18950, HG03838, HG01800, HG01362, HG03689, NA07051, HG01598, HG03012, NA20504, HG01260, NA19786, HG04003, NA20887, HG02181, HG00125, NA21125, HG01801, NA19376, NA19078, HG00707, HG01917, HG00409, HG02238, NA20582, HG01028, HG00329, HG02032, HG01783, HG02410, NA19726, NA18972, HG01617, HG01377, NA18984, HG00472, HG01464, HG03611, NA19004, HG01863, HG04161, HG03890, HG00759, NA18549, HG01583, HG00437, HG01976, NA20511, HG04210, HG02658, HG01173, HG00304, HG04096, HG02385, HG02002, NA12286, HG01624, HG01610, HG00559, HG02375, HG03111, HG03753, HG02784, HG01815, HG00766, NA20878, HG02029, HG00315, NA20752, NA20802, HG00244, NA18639, HG01806, HG01802, HG03926, HG03126, NA18616, HG01947, HG00449, HG02384, HG00654, HG02536, HG00261, HG03999, NA18602, HG04156, HG03478, HG00693, NA18988, NA18627, HG03009, HG03782, HG02792, HG00663, NA18563, HG00641, HG00272, HG02016, HG03168, NA18597, HG03943, HG03754, HG01702, HG03808, HG00674, HG00599, HG02146, HG02383, NA18567, HG01968, HG03604, HG01761, NA18571, NA21108, HG00451, HG00185, NA11930, HG03619, HG02252, HG01080, HG00867, HG00325, HG02187, HG00232, HG00113, NA12044, HG03888, HG00534, NA18748, HG00705, NA18966, HG04020, HG02190, NA19722, HG03814, NA18990, HG01198, NA18557, HG02260, HG01121, NA18539, HG04075, HG02164, HG01256, HG00743, NA18645, HG02442, NA18747, HG00443, HG00268, NA19091, NA19006, HG02345, HG00360, NA20885, HG02057, HG00732, HG04195, HG00101, HG01979, NA20314, HG02775, HG01142, NA18579, HG01077, HG03805, HG02165, NA18534, HG01675, HG01029, HG00239, HG04235, NA20525, NA19654, HG00284, NA20867, NA18573, NA11919, HG03730, HG00651, NA20866, HG00250, HG00531, HG00479, HG03713, HG02787, HG01870, HG00684, HG02657, HG03631, HG01593, HG01101, HG00140, NA19752, NA18553, HG03971, HG01474, HG00146, NA18963, HG03672, HG00704, HG04159, HG03898, HG00864, HG01572, HG00240, NA12546, NA19012, NA18974, HG02722, HG02660, NA20872, HG02089, HG00254, HG04006, HG01980, HG00625, NA19747, HG01131, HG00353, HG01878, NA19072, HG02790, NA12272, HG01685, HG02304, HG01272, HG00473, HG01137, HG02317, NA18610, HG03779, HG00620, HG00339, HG04080, HG01086, HG04140, HG01868, NA21102, HG04014, HG03733, NA19716, HG01846, NA20852, NA18636, NA21093, NA19185, HG01600, HG03925, HG03872, HG03077, HG02681, HG00728, NA18983, HG00105, HG01431, HG01111, HG02020, NA18968, NA12890, HG04153, NA18740, HG03955, HG01927, HG01805, HG00553, NA18620, HG04198, HG00403, HG04212, HG00881, NA21110, HG03800, NA19222, NA11830, HG03857, NA21097, HG02652, HG01098, HG02250, HG01356, NA20543, HG00536, NA20877, HG00361, HG02298, HG01773, HG00524, HG00351, HG03237, HG01860, HG01855, NA20274, HG03767, NA21092, HG03607, HG01970, HG04002, HG00318, HG02870, NA19057, NA18606, HG02271, HG00179, HG03792, HG00879, NA19314, HG03944, HG03836, HG02023, NA12155, NA18967, HG00622, HG04100, HG00127, NA19005, HG01366, HG04022, HG01853, HG03490, HG01997, NA20586, HG03976, HG02155, NA18982, NA18619, HG03905, HG02130, HG03885, HG00851, HG00346, NA18642, HG01242, HG03826, NA18970, HG01398, HG01067, HG03968, HG02512, HG02067, NA18977, HG03595, HG01495, HG01072, HG03788, HG03696, HG00422, NA19317, NA21107, NA18986, HG01932, NA20845, NA20811, HG00159, HG02180, NA21114, NA18640, NA18954, HG00739, NA18648, HG01312, HG00260, NA18614, HG02737, NA20854, HG03844, HG02265, HG01841, HG01187, HG00596, HG03007, HG01595, HG02513, HG01247, HG00328, HG02152, HG02025, HG00653, HG02397, HG03636, NA18939, HG00436, HG02390, NA18637, NA20506, HG04019, HG01119, NA20767, HG03919, HG01808, NA18630, HG02221, HG01049, HG00708, NA18757, HG01092, HG02364, HG01390, NA18566, HG01512, NA19774, HG03136, HG00956, HG04054, HG03660, NA20538, NA12249, HG02649, HG03974, HG02086, HG00525, NA19740, NA19320, HG02292, HG02184, HG02031, HG00410, HG01596, HG01204, NA18546, HG01992, NA18608, NA21113, HG03790, HG03809, NA18961, HG02049, HG03899, NA18941, HG00623, HG01977, HG01494, HG01974, NA18643, NA19741, HG02139, HG04090, NA21126, NA19085, NA06986, HG01862, HG00107, HG02398, HG01395, HG04023, HG00371, HG03896, HG02230, HG03863, HG02699, HG02654, HG00656, HG03022, HG01089, HG03684, HG00186, HG01817, HG00234, HG01872, HG03894, HG02186, NA19661, HG02028, NA19755, HG01566, NA18511, HG01869, NA21104, HG03931, HG00554, HG02006, NA18622, HG03686, HG00978, NA18562, HG02060, NA18965, HG01926
Known GenesCES1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638686
Frequency
Sample Size2504
Observed Gain0
Observed Loss845
Observed Complex0
Frequencyn/a


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