A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640680



Internal ID6680766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46153527..46185331hg38UCSC Ensembl
chr17:44230893..44262697hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831805
hg1931805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv576e214
Supporting Variantsessv15684299, essv15684171, essv15683872, essv15683688, essv15684105, essv15684178, essv15683774, essv15684013, essv15684046, essv15683674, essv15684391, essv15684464, essv15684354, essv15684445, essv15683897, essv15683864, essv15684113, essv15684382, essv15683679, essv15684339, essv15683982, essv15684021, essv15684070, essv15684026, essv15684200, essv15683870, essv15683843, essv15683739, essv15684350, essv15683853, essv15684444, essv15684283, essv15684267, essv15684138, essv15684104, essv15684442, essv15683738, essv15683626, essv15684404, essv15684050, essv15684057, essv15684322, essv15683871, essv15684324, essv15684166, essv15683675, essv15684150, essv15684089, essv15684348, essv15684199, essv15684028, essv15684343, essv15684119, essv15683839, essv15683970, essv15684395, essv15684347, essv15683596, essv15683911, essv15684035, essv15683916, essv15684232, essv15684031, essv15683696, essv15683608, essv15683697, essv15683614, essv15684098, essv15684318, essv15684315, essv15684206, essv15683827, essv15684289, essv15684183, essv15683759, essv15683757, essv15684079, essv15684452, essv15683597, essv15683648, essv15683728, essv15684193, essv15683879, essv15683676, essv15684221, essv15684377, essv15684121, essv15683593, essv15683724, essv15683777, essv15684131, essv15683612, essv15684252, essv15683707, essv15684004, essv15684101, essv15684043, essv15683948, essv15684177, essv15683992, essv15684450, essv15683973, essv15684066, essv15684100, essv15684294, essv15683615, essv15684329, essv15684335, essv15683706, essv15683792, essv15683746, essv15684239, essv15684059, essv15684356, essv15683653, essv15684432, essv15684306, essv15683946, essv15684457, essv15684280, essv15683637, essv15684051, essv15684352, essv15684135, essv15684379, essv15684042, essv15683984, essv15684099, essv15683713, essv15683821, essv15683818, essv15684056, essv15683945, essv15683695, essv15683934, essv15683822, essv15684389, essv15684087, essv15683776, essv15684186, essv15684421, essv15684337, essv15684195, essv15684227, essv15684425, essv15684406, essv15684409, essv15684338, essv15684065, essv15684307, essv15683779, essv15683881, essv15683848, essv15684182, essv15683983, essv15683953, essv15683900, essv15683791, essv15683737, essv15684363, essv15684463, essv15683651, essv15683834, essv15683810, essv15684010, essv15684085, essv15683830, essv15683752, essv15684342, essv15684371, essv15684202, essv15684112, essv15684009, essv15684386, essv15683949, essv15684323, essv15684209, essv15683747, essv15684394, essv15683844, essv15683958, essv15684392, essv15683855, essv15683837, essv15684136, essv15684145, essv15683868, essv15684240, essv15684451, essv15684359, essv15683734, essv15684228, essv15684096, essv15683625, essv15684169, essv15683893, essv15684284, essv15683753, essv15683663, essv15684436, essv15684041, essv15683691, essv15683928, essv15683635, essv15684134, essv15683617, essv15684163, essv15684161, essv15683869, essv15684003, essv15683964, essv15683609, essv15684185, essv15683815, essv15684302, essv15683904, essv15683782, essv15683718, essv15683857, essv15683638, essv15684124, essv15684155, essv15684455, essv15683642, essv15683740, essv15684285, essv15684222, essv15684316, essv15684357, essv15683802, essv15683666, essv15684229, essv15684390, essv15684237, essv15684205, essv15684461, essv15683749, essv15683599, essv15684312, essv15683921, essv15684175, essv15683914, essv15684325, essv15684108, essv15684045, essv15683799, essv15684158, essv15684160, essv15684157, essv15684358, essv15684416, essv15684265, essv15683605, essv15683931, essv15683971, essv15683600, essv15684414, essv15684223, essv15684064, essv15683910, essv15684245, essv15684144, essv15684396, essv15683628, essv15683702, essv15684139, essv15684365, essv15684097, essv15683660, essv15684250, essv15684340, essv15684106, essv15683899, essv15684249, essv15683701, essv15684180, essv15684095, essv15684049, essv15684243, essv15684120, essv15683619, essv15684308, essv15684441, essv15684458, essv15683672, essv15683698, essv15684367, essv15683764, essv15684422, essv15684310, essv15683682, essv15684361, essv15683817, essv15683858, essv15684276, essv15683623, essv15684236, essv15684173, essv15684210, essv15683641, essv15684262, essv15684132, essv15683907, essv15683850, essv15684378, essv15684309, essv15683940, essv15683602, essv15684433, essv15684077, essv15683955, essv15684218, essv15683932, essv15684293, essv15684078, essv15683627, essv15684153, essv15684116, essv15684397, essv15684071, essv15683938, essv15684336, essv15684241, essv15684187, essv15683999, essv15684272, essv15684381, essv15683677, essv15684011, essv15683598, essv15683937, essv15684090, essv15684446, essv15684130, essv15684296, essv15683912, essv15683786, essv15683631, essv15683833, essv15683692, essv15684156, essv15683922, essv15683993, essv15683657, essv15683607, essv15684260, essv15683780, essv15684259, essv15684253, essv15684244, essv15684353, essv15684465, essv15683630, essv15683804, essv15684326, essv15684235, essv15684437, essv15683925, essv15684424, essv15683781, essv15684263, essv15683744, essv15684039, essv15683731, essv15683969, essv15683654, essv15684373, essv15683831, essv15683957, essv15683769, essv15684351, essv15684181, essv15683862, essv15683624, essv15684014, essv15683693, essv15684032, essv15683851, essv15683673, essv15684292, essv15684345, essv15683819, essv15683758, essv15683954, essv15683849, essv15683885, essv15683808, essv15684454, essv15683975, essv15684264, essv15683750, essv15684154, essv15683865, essv15684258, essv15683960, essv15683890, essv15683686, essv15684184, essv15683882, essv15684128, essv15684005, essv15684048, essv15684266, essv15684303, essv15684044, essv15684398, essv15684080, essv15683687, essv15684231, essv15684167, essv15684076, essv15683710, essv15683667, essv15684275, essv15684242, essv15683665, essv15683828, essv15684238, essv15683923, essv15684248, essv15683730, essv15684344, essv15684133, essv15684015, essv15684374, essv15683887, essv15683997, essv15684251, essv15683978, essv15684435, essv15684006, essv15684127, essv15683722, essv15683742, essv15683726, essv15684103, essv15683766, essv15684023, essv15683664, essv15684226, essv15684362, essv15684407, essv15683884, essv15684146, essv15684423, essv15683961, essv15683755, essv15683867, essv15683694, essv15684024, essv15683745, essv15683793, essv15683770, essv15684387, essv15684297, essv15683814, essv15683778, essv15684060, essv15684007, essv15683645, essv15684084, essv15684061, essv15683963, essv15683888, essv15684402, essv15683805, essv15683947, essv15684038, essv15683943, essv15683981, essv15684074, essv15684082, essv15684355, essv15683979, essv15683603, essv15683877, essv15683920, essv15684083, essv15683996, essv15683727, essv15683715, essv15684369, essv15683771, essv15684164, essv15683761, essv15683909, essv15683944, essv15683806, essv15683656, essv15683705, essv15683987, essv15683935, essv15683723, essv15683913, essv15683751, essv15683901, essv15684385, essv15683926, essv15684286, essv15683621, essv15683646, essv15684102, essv15683767, essv15684192, essv15684017, essv15683845, essv15684110, essv15683980, essv15683968, essv15684091, essv15684290, essv15684143, essv15683785, essv15683787, essv15684384, essv15683772, essv15683649, essv15684443, essv15683680, essv15683873, essv15684426, essv15684224, essv15684019, essv15683763, essv15683836, essv15683800, essv15684152, essv15684159, essv15683974, essv15683595, essv15684030, essv15683809, essv15684261, essv15683889, essv15683754, essv15684118, essv15683820, essv15683840, essv15683883, essv15684201, essv15684415, essv15684172, essv15683643, essv15683644, essv15684380, essv15683902, essv15683661, essv15684094, essv15684321, essv15683735, essv15684033, essv15683898, essv15683796, essv15683985, essv15684256, essv15684246, essv15683743, essv15684142, essv15683670, essv15683906, essv15683700, essv15683816, essv15684189, essv15683736, essv15684410, essv15684002, essv15683919, essv15683918, essv15683647, essv15683704, essv15684214, essv15684016, essv15683716, essv15684179, essv15684459, essv15684170, essv15683798, essv15684040, essv15684255, essv15684001, essv15683748, essv15684405, essv15683794, essv15684418, essv15684298, essv15684034, essv15684022, essv15684018, essv15683789, essv15684281, essv15683841, essv15683711, essv15684075, essv15683829, essv15683803, essv15684129, essv15684211, essv15683967, essv15684254, essv15684000, essv15684271, essv15684257, essv15683930, essv15684176, essv15683874, essv15684190, essv15684212, essv15683866, essv15684349, essv15684333, essv15684411, essv15684213, essv15683991, essv15683720, essv15684217, essv15684460, essv15683729, essv15684117, essv15684268, essv15684111, essv15684109, essv15684072, essv15683636, essv15684047, essv15683708, essv15684327, essv15683721, essv15683990, essv15684149, essv15683668, essv15683846, essv15684330, essv15684107, essv15683824, essv15683760, essv15683878, essv15684403, essv15683892, essv15683610, essv15683629, essv15684328, essv15683640, essv15684114, essv15683633, essv15684360, essv15683756, essv15684427, essv15683941, essv15683950, essv15683634, essv15683773, essv15683835, essv15684092, essv15684141, essv15684278, essv15683783, essv15684429, essv15684069, essv15683632, essv15684165, essv15683611, essv15683658, essv15684058, essv15684273, essv15684196, essv15684067, essv15683917, essv15684270, essv15683875, essv15683880, essv15683915, essv15684234, essv15684317, essv15683765, essv15683860, essv15684055, essv15683790, essv15684313, essv15684198, essv15684430, essv15684332, essv15684123, essv15683639, essv15684311, essv15683784, essv15684203, essv15684191, essv15684467, essv15684274, essv15684438, essv15684008, essv15684088, essv15684440, essv15684036, essv15684122, essv15683616, essv15683847, essv15683618, essv15683807, essv15683812, essv15683659, essv15683689, essv15683966, essv15684412, essv15684063, essv15684346, essv15684341, essv15684401, essv15684301, essv15684086, essv15683986, essv15684291, essv15684434, essv15683717, essv15684408, essv15684220, essv15684126, essv15683998, essv15683823, essv15684462, essv15684366, essv15683733, essv15684279, essv15683929, essv15684151, essv15683732, essv15684388, essv15683896, essv15683936, essv15683671, essv15684320, essv15683620, essv15683908, essv15684466, essv15683690, essv15684020, essv15683683, essv15684233, essv15683863, essv15683768, essv15684277, essv15684375, essv15684331, essv15684225, essv15684368, essv15684304, essv15684073, essv15683811, essv15683894, essv15683604, essv15684168, essv15684140, essv15683959, essv15684282, essv15683622, essv15684207, essv15684125, essv15683601, essv15684037, essv15683939, essv15683775, essv15684027, essv15684174, essv15683788, essv15683606, essv15683594, essv15683965, essv15684269, essv15683826, essv15683886, essv15683852, essv15683859, essv15683669, essv15684399, essv15684319, essv15684062, essv15683797, essv15683712, essv15683942, essv15683876, essv15684428, essv15684052, essv15683613, essv15683719, essv15684417, essv15684287, essv15683681, essv15684453, essv15683801, essv15684456, essv15684188, essv15684449, essv15684197, essv15683952, essv15684376, essv15683891, essv15683956, essv15684383, essv15684314, essv15684247, essv15684147, essv15683832, essv15683924, essv15684439, essv15683741, essv15684054, essv15683714, essv15684115, essv15684370, essv15683995, essv15683725, essv15683662, essv15684393, essv15684068, essv15683903, essv15683650, essv15683684, essv15684216, essv15684012, essv15684162, essv15683856, essv15684334, essv15684208, essv15684288, essv15683685, essv15684081, essv15684413, essv15683962, essv15683762, essv15684372, essv15684448, essv15684295, essv15684029, essv15683905, essv15683988, essv15683655, essv15683854, essv15683842, essv15684431, essv15684025, essv15683972, essv15683951, essv15683709, essv15683678, essv15683994, essv15684447, essv15684148, essv15683927, essv15683795, essv15683825, essv15684364, essv15683933, essv15684137, essv15683699, essv15684420, essv15683976, essv15683813, essv15684093, essv15684219, essv15684419, essv15683703, essv15684300, essv15684194, essv15684204, essv15684400, essv15684215, essv15684053, essv15683861, essv15683652, essv15683977, essv15684305, essv15683838, essv15684230, essv15683989, essv15683895
SamplesNA20588, NA20529, NA21111, HG01965, HG03228, HG00142, HG01443, HG00384, HG04222, HG04060, NA21099, HG03687, HG01602, NA21100, NA12843, NA11920, HG01326, NA11931, HG03717, HG02661, HG02231, HG00257, HG00151, HG00233, NA20512, HG04076, NA12751, HG03941, HG02600, HG03616, NA21137, NA20864, NA19684, HG02215, HG02688, NA21128, HG01704, HG03679, NA20806, NA20894, NA12813, HG04059, HG00138, HG03645, HG01506, HG03770, HG00122, HG03722, HG01177, NA19678, HG01676, HG01167, NA21130, HG04206, HG01766, NA20756, NA20911, NA20795, HG03673, HG00129, HG03913, HG03736, HG01492, NA07048, HG03874, NA11918, HG03234, NA20768, NA12762, HG00355, HG04070, HG03978, HG00311, HG03917, HG00158, HG04033, HG00130, NA20759, HG04183, HG03817, NA19720, HG03910, HG00335, HG01519, NA20812, HG02597, HG01284, HG03947, HG01950, HG04047, HG00326, HG03649, HG03585, HG01967, HG01550, NA20515, NA19789, NA20755, HG02479, HG01565, HG01164, HG00137, NA12777, NA20904, HG03697, NA20892, NA20535, HG00731, NA20800, HG03685, HG02793, HG01200, HG04146, HG03718, HG03907, HG04039, NA12878, HG03786, NA20521, HG01684, HG01095, NA20810, NA20760, HG03928, HG02253, NA19717, NA19663, HG02731, HG03711, HG00344, HG03900, HG03771, HG03775, NA12718, HG02728, NA20519, HG03781, NA12234, HG01630, HG03823, HG01047, HG01102, NA20903, NA20901, NA21086, HG03951, HG02445, NA11893, HG00331, NA21112, HG04173, HG01613, NA19750, NA06989, HG04017, HG01130, HG04063, HG01334, HG02256, HG03006, HG03752, NA12778, HG04176, HG02219, HG01697, HG04118, HG00126, HG04093, HG01625, HG01107, HG03694, HG01257, HG03743, HG03720, NA20799, HG04025, HG03598, HG03848, HG04216, HG04026, HG03875, HG02308, HG03949, HG03920, NA12873, NA20520, HG03702, HG02232, HG03869, HG00116, NA20281, NA12763, NA12347, HG03973, HG03703, NA20888, HG03729, NA20906, HG02700, HG01577, NA19785, HG03849, HG00267, HG03716, HG04098, HG01631, HG01269, HG02013, NA20826, HG04171, NA20503, HG01756, NA20827, HG03867, HG03985, HG01776, HG01437, NA11832, HG03989, HG03864, HG01507, HG03690, HG00096, HG03812, NA20874, HG01060, HG00114, HG01746, HG00235, HG01441, NA19648, HG00121, HG03652, HG01303, NA11995, HG03731, HG03960, HG01359, HG03821, HG01052, HG04229, NA20899, HG01537, HG00100, HG04194, HG01586, HG04202, HG01188, NA11933, NA19734, HG03589, HG01389, NA12045, HG04094, NA19819, HG03772, NA21115, HG04018, HG04164, NA20808, HG00150, HG02734, HG04001, HG03950, HG01500, NA19746, HG01503, HG00251, HG00109, HG03706, HG03640, HG03757, NA20890, HG01064, HG00173, HG03937, HG03765, NA20769, HG00736, NA19649, HG02655, NA20540, NA12287, HG03911, HG03629, HG04131, NA20513, HG03762, HG03594, NA20541, HG03830, NA12761, HG03868, HG03851, HG01893, HG01134, NA12282, HG00277, NA12005, HG02493, NA19651, HG00120, HG03986, HG00106, HG02224, NA20896, HG01757, HG01527, HG03746, HG03777, HG01176, NA12889, NA12815, HG03995, HG03744, HG03750, NA12828, NA20587, HG01605, HG03884, NA12748, HG01699, HG01603, HG01524, NA20818, HG03709, HG01784, HG00188, HG03780, NA19657, HG01360, NA20858, NA19707, HG04225, NA20524, HG03787, HG01384, NA12342, HG04062, HG03644, HG02697, HG02236, NA12872, HG01790, NA20809, HG01612, NA19982, HG02307, NA19788, HG04035, NA21098, HG03756, NA20770, HG01777, HG01392, HG01619, HG01414, HG03824, HG03858, HG02494, HG01197, HG00110, HG02604, HG01504, HG01383, NA20881, HG03625, HG03854, HG02725, HG01708, NA06985, NA20828, HG00141, HG02586, NA21142, HG03940, HG01700, NA21143, NA20296, HG01363, HG03866, HG04134, NA11881, NA19834, HG01954, NA19749, HG04239, HG03838, HG01362, HG01253, HG00136, HG03689, HG03012, NA19786, HG00319, NA20803, HG00256, NA21094, HG03681, HG00125, NA21125, NA19818, HG01606, HG01432, HG04015, NA20868, HG03646, HG00329, NA12749, HG01783, NA19713, HG00174, NA21101, HG04209, HG03998, NA20807, NA19726, HG00372, HG00252, HG01617, HG01377, HG03922, HG00345, HG04161, HG03890, HG01583, NA20509, HG01747, NA20511, NA12383, HG04210, NA20882, NA19701, NA20761, HG02658, NA12717, HG01412, HG04096, HG00143, HG00102, NA12286, HG01624, HG01610, HG00242, NA21127, NA12273, NA20514, HG03753, HG02784, NA20878, HG02727, HG00315, NA20802, HG00181, NA12340, HG03229, HG00737, NA20517, HG01051, HG00261, HG00097, NA20771, HG03999, NA12399, HG04156, HG01522, HG03009, HG01513, HG00271, HG03782, HG02792, NA20814, NA21135, HG03016, HG03943, NA19764, HG03808, HG02146, NA20774, HG01168, HG04042, HG00238, HG03604, HG01761, NA20822, NA07347, NA21108, HG02603, NA20539, NA19923, NA12275, HG00148, NA21109, NA12156, HG02736, NA11932, HG00232, HG00113, NA12044, NA11994, HG03888, HG03691, HG01525, HG00160, HG00118, HG01133, HG01058, HG01709, HG01121, HG01626, HG01275, NA21105, HG00365, HG04075, HG03784, NA20318, NA20753, HG03861, HG01171, HG00380, HG03714, HG01670, HG01669, HG00360, NA21119, HG03990, HG01789, NA20885, HG04195, HG01882, HG01979, HG00132, HG02775, NA20862, HG01768, HG01142, HG00263, HG00275, HG01077, HG03805, HG01323, HG01149, HG01675, HG00239, HG04235, HG03967, NA20525, NA20867, NA11919, HG03730, NA20866, HG00350, NA20581, HG03713, HG02787, HG02657, HG03631, NA20856, HG03643, HG01593, HG00140, NA19752, HG03953, HG03971, HG02783, HG03969, HG03914, HG01474, HG03672, NA12144, HG04159, HG03898, HG00246, HG00240, HG03653, NA12043, HG03238, HG02660, HG00258, NA20872, HG00155, HG00254, HG04227, HG00265, HG04006, HG01980, HG01131, HG02220, HG04186, NA12272, HG03695, HG01551, HG00734, HG01396, HG01357, NA21123, NA20790, NA20530, NA20527, NA20362, NA20778, HG00237, HG04099, HG03870, HG01113, HG03727, HG03779, HG04080, NA06994, HG02694, HG04140, HG03642, NA20847, NA21090, HG03977, NA20849, NA21102, HG04014, HG03733, HG02235, HG00342, NA19716, NA20852, NA21133, NA20510, NA21093, HG00310, NA20786, HG00280, NA20758, HG03925, HG03872, NA19780, NA19711, HG01468, HG02681, HG02774, HG01479, HG00105, HG01431, NA11892, HG00171, NA12890, NA12006, NA20585, HG04153, HG04061, HG03955, NA20908, HG01786, NA21091, HG01516, HG04198, HG03741, HG04212, HG03773, NA21110, HG03800, HG03857, NA21097, HG01521, HG01098, HG01356, NA20543, HG01438, HG00361, HG03237, HG00187, HG02433, HG03767, HG03738, HG04211, HG01280, NA21092, HG03607, NA20532, HG04002, HG00640, HG00367, HG01465, HG01531, HG00364, NA19777, HG03963, HG01456, HG03895, HG02271, HG00179, HG03792, HG01632, HG03944, HG03836, NA12155, HG03680, HG01694, HG01140, NA20846, HG03235, NA19792, HG04100, HG00127, HG01682, HG04022, HG01779, HG03490, NA20586, HG03976, HG03873, NA20317, NA20905, NA12348, NA11992, HG03885, HG00346, NA12283, NA19771, HG00369, HG01510, NA19782, HG01393, HG02786, HG01242, HG03803, HG04214, HG03826, HG01455, HG01067, HG03968, NA06984, HG01628, HG03595, HG01495, HG01072, HG03788, HG01281, HG03696, HG01673, HG01405, NA21107, HG03693, HG04238, HG01440, HG00309, HG01932, NA20811, HG04185, HG00159, NA21114, NA20533, HG04029, HG00739, HG01312, HG03862, HG00260, NA21106, NA10847, HG01353, HG00133, HG02737, HG01139, NA20854, HG03902, HG03844, HG03785, HG03908, HG01248, HG02233, HG01247, HG00328, HG01104, NA20505, HG00190, HG01271, HG04107, HG03636, NA20895, HG03945, NA20506, HG04019, HG01119, NA20767, HG02221, HG01092, HG01447, HG01390, HG03742, HG01615, HG01311, HG03871, HG01512, HG04054, HG03660, NA21141, NA11894, NA20538, HG02649, HG03974, HG01791, HG00321, HG00157, HG03745, HG03634, HG04152, HG03755, HG03774, HG01204, NA20765, NA20821, NA21087, NA21113, HG01444, NA20773, NA20522, HG03833, HG03778, HG04188, HG02682, HG00357, HG03899, HG00278, HG02651, HG03850, HG00308, HG03488, HG01933, HG03846, HG02685, NA19741, NA20797, NA12874, NA07037, HG04090, NA21126, NA19085, NA06986, HG04141, HG01395, HG04023, HG00371, HG01770, HG01491, HG03789, NA21088, HG03863, HG02654, NA20334, HG03022, HG00123, HG03684, HG03615, HG00186, HG02239, HG00234, HG03894, HG01781, NA20528, HG01251, NA20886, HG03882, HG01775, HG01378, HG03856, HG01082, HG04056, NA20763, HG01672, NA21104, HG03931, HG01112, HG00554, HG00180, HG03686, HG01695, NA12776, HG01608
Known GenesKANSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640680
Frequency
Sample Size2504
Observed Gain875
Observed Loss0
Observed Complex0
Frequencyn/a


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