A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638689



Internal ID7025474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55798295..55830609hg38UCSC Ensembl
chr16:55832207..55864521hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3832315
hg1932315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523e214
Supporting Variantsessv15482511, essv15482994, essv15482789, essv15482617, essv15482601, essv15482777, essv15482435, essv15482944, essv15483066, essv15482697, essv15482932, essv15483109, essv15482577, essv15482352, essv15483111, essv15482837, essv15482668, essv15482340, essv15482455, essv15482603, essv15482897, essv15482342, essv15482360, essv15482985, essv15482840, essv15483112, essv15483091, essv15482962, essv15482641, essv15482582, essv15482973, essv15482543, essv15482572, essv15482826, essv15482949, essv15483152, essv15483041, essv15482620, essv15482795, essv15482872, essv15482726, essv15482849, essv15482715, essv15483018, essv15482565, essv15482581, essv15482499, essv15482507, essv15482500, essv15483072, essv15483029, essv15482841, essv15482978, essv15482678, essv15482467, essv15482984, essv15482438, essv15482739, essv15482692, essv15482570, essv15483075, essv15482779, essv15482856, essv15482550, essv15482705, essv15482835, essv15482740, essv15482385, essv15483053, essv15482331, essv15482406, essv15482991, essv15482861, essv15483065, essv15482954, essv15483073, essv15483147, essv15482695, essv15482396, essv15483035, essv15482817, essv15482520, essv15482785, essv15482958, essv15482934, essv15482433, essv15482383, essv15482367, essv15483122, essv15482930, essv15482411, essv15482759, essv15482491, essv15482890, essv15482472, essv15482400, essv15483042, essv15482319, essv15482369, essv15482923, essv15482355, essv15482568, essv15482376, essv15483162, essv15482859, essv15482450, essv15482373, essv15482350, essv15483137, essv15482544, essv15482811, essv15482318, essv15482656, essv15482515, essv15482895, essv15482674, essv15483146, essv15482756, essv15482426, essv15482402, essv15482362, essv15482698, essv15482959, essv15482792, essv15483155, essv15483142, essv15483033, essv15482466, essv15482846, essv15482762, essv15482608, essv15483141, essv15482842, essv15482534, essv15483099, essv15482519, essv15482725, essv15482509, essv15482831, essv15483081, essv15482532, essv15482709, essv15482946, essv15482909, essv15482929, essv15482329, essv15482953, essv15482492, essv15482776, essv15482728, essv15483039, essv15483045, essv15483054, essv15482598, essv15482351, essv15482368, essv15483060, essv15482453, essv15482325, essv15482636, essv15482899, essv15483120, essv15483030, essv15482896, essv15482633, essv15482408, essv15482961, essv15482735, essv15482701, essv15482748, essv15482721, essv15483014, essv15482675, essv15482843, essv15482702, essv15482858, essv15483027, essv15482573, essv15482444, essv15482495, essv15482999, essv15482947, essv15482412, essv15482802, essv15483005, essv15482465, essv15482459, essv15482632, essv15482793, essv15482387, essv15483100, essv15483138, essv15482528, essv15482419, essv15482922, essv15482503, essv15482432, essv15482323, essv15482761, essv15483086, essv15482988, essv15482941, essv15482834, essv15482875, essv15483088, essv15482321, essv15483083, essv15483032, essv15482724, essv15482589, essv15482854, essv15482380, essv15482605, essv15482593, essv15482548, essv15482457, essv15482910, essv15483024, essv15482783, essv15483133, essv15482744, essv15482824, essv15482629, essv15483132, essv15482335, essv15482769, essv15482996, essv15482782, essv15482787, essv15482660, essv15482334, essv15483048, essv15483117, essv15482398, essv15483101, essv15483093, essv15483124, essv15482688, essv15482992, essv15482320, essv15482758, essv15482421, essv15483082, essv15482602, essv15482522, essv15482416, essv15482904, essv15482348, essv15483156, essv15482894, essv15482430, essv15482359, essv15482995, essv15482619, essv15482763, essv15482764, essv15482569, essv15482950, essv15482561, essv15482525, essv15482881, essv15482801, essv15482804, essv15483139, essv15482653, essv15482545, essv15482663, essv15482399, essv15482998, essv15482616, essv15482407, essv15482470, essv15483067, essv15482322, essv15482852, essv15482462, essv15482823, essv15482606, essv15483007, essv15482794, essv15483064, essv15482493, essv15482780, essv15482538, essv15482974, essv15482972, essv15482535, essv15482487, essv15482869, essv15482531, essv15482902, essv15482914, essv15482418, essv15482886, essv15482704, essv15482591, essv15482452, essv15483151, essv15482580, essv15483104, essv15482382, essv15482866, essv15482685, essv15482810, essv15482965, essv15483145, essv15482979, essv15482767, essv15482981, essv15482920, essv15482346, essv15482774, essv15482625, essv15482797, essv15482541, essv15483144, essv15482967, essv15482494, essv15482964, essv15482719, essv15482579, essv15482578, essv15483006, essv15482655, essv15482750, essv15482333, essv15483134, essv15483136, essv15482478, essv15483047, essv15482417, essv15482563, essv15483089, essv15482513, essv15482736, essv15483105, essv15482635, essv15482754, essv15482327, essv15483038, essv15482479, essv15483008, essv15482712, essv15483128, essv15483143, essv15482830, essv15482410, essv15482599, essv15482556, essv15482592, essv15482533, essv15482393, essv15482770, essv15483036, essv15482627, essv15482989, essv15482905, essv15482375, essv15482691, essv15483153, essv15483063, essv15483062, essv15482796, essv15483055, essv15482903, essv15482339, essv15482987, essv15483149, essv15482677, essv15482388, essv15482336, essv15482451, essv15483021, essv15482415, essv15482951, essv15482566, essv15482727, essv15482356, essv15482529, essv15482687, essv15482486, essv15483125, essv15482827, essv15482612, essv15482448, essv15482883, essv15483044, essv15482437, essv15482833, essv15482966, essv15482771, essv15482708, essv15482879, essv15483160, essv15482423, essv15482915, essv15482838, essv15482672, essv15483130, essv15482885, essv15482753, essv15482610, essv15482622, essv15482476, essv15483002, essv15482326, essv15483118, essv15482460, essv15482597, essv15482680, essv15482809, essv15482943, essv15482850, essv15482749, essv15482768, essv15482446, essv15483127, essv15482876, essv15482847, essv15482957, essv15482970, essv15482813, essv15482773, essv15482364, essv15483102, essv15482822, essv15482395, essv15482508, essv15482700, essv15482469, essv15482481, essv15482916, essv15482652, essv15482497, essv15482434, essv15482990, essv15482358, essv15482669, essv15482562, essv15482496, essv15483010, essv15482784, essv15482390, essv15482659, essv15482682, essv15482637, essv15482586, essv15483061, essv15482931, essv15483011, essv15482860, essv15482559, essv15482328, essv15482975, essv15482888, essv15483049, essv15483052, essv15482775, essv15482345, essv15482781, essv15482716, essv15482829, essv15482711, essv15482445, essv15483098, essv15483019, essv15482818, essv15482363, essv15483031, essv15482851, essv15482547, essv15482971, essv15482948, essv15482607, essv15483000, essv15482574, essv15482498, essv15482938, essv15482788, essv15482604, essv15482878, essv15482483, essv15482441, essv15482882, essv15482567, essv15482661, essv15482642, essv15483103, essv15482845, essv15482658, essv15483131, essv15482720, essv15482471, essv15482741, essv15483013, essv15482907, essv15482676, essv15482473, essv15482901, essv15482489, essv15482980, essv15483121, essv15483076, essv15482394, essv15483115, essv15482389, essv15482536, essv15482377, essv15482747, essv15482510, essv15483017, essv15482594, essv15482442, essv15482952, essv15482332, essv15482684, essv15482357, essv15482891, essv15482571, essv15482516, essv15483078, essv15482729, essv15482397, essv15482585, essv15482734, essv15482836, essv15482530, essv15482384, essv15482666, essv15483023, essv15482757, essv15482690, essv15482330, essv15483026, essv15482863, essv15482501, essv15482873, essv15482731, essv15482928, essv15482717, essv15482956, essv15483164, essv15483077, essv15482414, essv15482710, essv15482670, essv15482893, essv15482867, essv15483129, essv15483148, essv15482755, essv15483158, essv15482485, essv15482609, essv15482463, essv15482877, essv15483015, essv15482942, essv15482790, essv15482723, essv15483097, essv15482623, essv15482924, essv15482381, essv15482800, essv15482927, essv15482917, essv15482699, essv15483050, essv15482912, essv15482862, essv15482518, essv15483166, essv15482449, essv15482431, essv15483119, essv15482527, essv15483159, essv15483069, essv15482630, essv15482521, essv15482926, essv15483025, essv15482906, essv15482807, essv15482679, essv15482343, essv15483150, essv15482900, essv15482732, essv15482751, essv15482921, essv15482366, essv15482337, essv15482913, essv15482587, essv15482730, essv15482798, essv15482737, essv15482742, essv15483046, essv15482474, essv15483126, essv15482681, essv15483028, essv15482808, essv15482596, essv15482456, essv15482537, essv15482855, essv15482512, essv15482480, essv15482963, essv15482490, essv15482714, essv15483154, essv15482839, essv15482424, essv15483056, essv15482718, essv15483070, essv15483040, essv15483004, essv15482746, essv15483095, essv15482908, essv15482884, essv15482791, essv15482428, essv15482976, essv15483003, essv15482955, essv15482738, essv15482936, essv15482993, essv15482945, essv15482733, essv15482614, essv15482539, essv15482986, essv15482828, essv15482765, essv15483087, essv15482686, essv15482940, essv15482439, essv15482832, essv15483001, essv15482898, essv15482353, essv15482347, essv15482557, essv15482386, essv15482613, essv15482454, essv15482595, essv15482468, essv15482868, essv15482427, essv15483140, essv15482694, essv15483085, essv15482588, essv15482576, essv15482654, essv15482549, essv15482371, essv15482631, essv15482600, essv15483110, essv15482772, essv15482405, essv15482939, essv15482378, essv15482640, essv15482429, essv15483135, essv15482504, essv15482564, essv15482552, essv15482799, essv15482590, essv15482425, essv15482689, essv15482821, essv15482461, essv15482374, essv15482806, essv15482560, essv15482482, essv15483016, essv15482707, essv15482937, essv15482391, essv15483051, essv15482997, essv15482722, essv15483123, essv15482703, essv15483163, essv15482892, essv15482805, essv15482621, essv15482865, essv15483043, essv15482960, essv15482870, essv15482968, essv15482925, essv15482554, essv15482420, essv15483157, essv15482918, essv15482553, essv15482526, essv15482665, essv15482643, essv15483107, essv15482488, essv15482760, essv15482324, essv15482657, essv15482977, essv15483022, essv15482803, essv15482693, essv15482662, essv15482812, essv15482611, essv15482706, essv15482673, essv15482983, essv15482436, essv15483074, essv15482514, essv15483090, essv15483094, essv15483092, essv15482935, essv15482639, essv15482401, essv15482919, essv15482365, essv15482887, essv15482814, essv15482911, essv15482786, essv15482546, essv15482825, essv15482645, essv15482648, essv15482745, essv15482820, essv15482634, essv15483037, essv15483106, essv15483116, essv15483057, essv15482392, essv15482864, essv15483068, essv15482349, essv15482874, essv15482880, essv15482502, essv15482644, essv15482650, essv15483161, essv15482664, essv15482372, essv15482667, essv15483096, essv15483009, essv15482819, essv15482506, essv15483108, essv15482815, essv15482583, essv15482440, essv15482615, essv15482555, essv15482484, essv15483059, essv15482752, essv15483165, essv15482443, essv15482647, essv15482505, essv15482404, essv15482816, essv15482626, essv15482524, essv15482341, essv15482575, essv15482458, essv15482982, essv15482624, essv15482651, essv15482848, essv15482649, essv15482713, essv15482844, essv15482696, essv15482475, essv15482413, essv15483080, essv15482542, essv15482743, essv15482523, essv15482766, essv15482344, essv15482584, essv15482447, essv15482628, essv15482871, essv15482558, essv15483071, essv15483114, essv15482551, essv15482361, essv15482638, essv15482853, essv15482671, essv15482889, essv15483079, essv15482618, essv15482370, essv15482338, essv15482379, essv15483084, essv15482969, essv15483020, essv15482477, essv15483113, essv15483034, essv15482933, essv15482464, essv15483012, essv15482778, essv15483058, essv15482409, essv15482540, essv15482403, essv15482857, essv15482646, essv15482517, essv15482683, essv15482422, essv15482354
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, NA19454, 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, HG02272, 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, NA20828, NA19756, NA18536, NA20542, HG00445, NA18646, HG01700, NA21143, HG01363, NA18978, HG00476, HG02684, HG00119, NA18535, HG01954, HG00742, HG00565, HG04239, NA18950, HG03838, HG01800, HG01362, HG03689, NA20351, 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, 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, HG00566, 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 GenesCES1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638689
Frequency
Sample Size2504
Observed Gain849
Observed Loss0
Observed Complex0
Frequencyn/a


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