A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617008



Internal ID6657204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42332869..42336834hg38UCSC Ensembl
Innerchr8:42333019..42336684hg38UCSC Ensembl
Outerchr8:42332719..42336984hg38UCSC Ensembl
chr8:42190387..42194352hg19UCSC Ensembl
Innerchr8:42190537..42194202hg19UCSC Ensembl
Outerchr8:42190237..42194502hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg383966
hg193966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13184826, essv13184158, essv13185050, essv13185420, essv13185392, essv13184786, essv13184251, essv13185364, essv13184182, essv13184085, essv13185682, essv13184280, essv13183823, essv13185344, essv13184064, essv13184738, essv13184216, essv13185060, essv13184851, essv13184317, essv13184906, essv13184312, essv13185370, essv13185462, essv13185058, essv13185261, essv13184843, essv13185594, essv13184281, essv13184307, essv13184261, essv13185294, essv13185472, essv13183914, essv13185430, essv13185079, essv13184202, essv13183846, essv13184767, essv13185447, essv13185722, essv13184713, essv13184240, essv13184169, essv13183955, essv13184036, essv13184965, essv13184654, essv13184314, essv13184834, essv13185785, essv13184021, essv13183993, essv13185094, essv13185498, essv13184927, essv13184745, essv13184643, essv13185300, essv13185013, essv13184712, essv13184898, essv13185549, essv13185625, essv13184556, essv13184609, essv13185733, essv13185411, essv13185196, essv13185561, essv13183753, essv13185699, essv13185437, essv13184405, essv13184104, essv13184224, essv13185072, essv13184964, essv13185004, essv13184985, essv13184543, essv13183856, essv13184173, essv13184658, essv13184651, essv13185032, essv13184644, essv13184779, essv13185564, essv13184427, essv13185592, essv13184688, essv13184800, essv13185755, essv13184888, essv13185468, essv13185657, essv13184383, essv13184694, essv13184200, essv13183765, essv13185291, essv13183928, essv13184706, essv13185426, essv13184645, essv13184736, essv13185793, essv13183876, essv13185324, essv13185320, essv13183976, essv13183785, essv13185638, essv13184635, essv13184457, essv13185604, essv13185613, essv13185725, essv13185612, essv13184891, essv13185530, essv13184983, essv13185222, essv13184989, essv13184757, essv13185779, essv13185228, essv13184002, essv13184315, essv13185390, essv13184687, essv13184458, essv13185271, essv13184668, essv13184859, essv13183839, essv13185226, essv13184947, essv13185557, essv13185735, essv13185515, essv13185746, essv13184798, essv13183995, essv13184472, essv13184561, essv13184833, essv13184880, essv13184679, essv13184721, essv13184539, essv13185236, essv13184586, essv13183944, essv13185709, essv13184589, essv13185078, essv13184206, essv13183858, essv13185049, essv13184074, essv13184330, essv13184847, essv13184785, essv13184550, essv13184889, essv13183841, essv13184266, essv13185352, essv13185649, essv13184063, essv13184089, essv13184293, essv13183894, essv13185749, essv13185461, essv13184674, essv13185574, essv13185246, essv13185098, essv13184508, essv13185778, essv13185423, essv13185475, essv13184567, essv13184079, essv13183937, essv13184460, essv13184447, essv13183943, essv13185351, essv13185245, essv13184378, essv13185512, essv13185360, essv13185327, essv13183911, essv13185457, essv13184623, essv13184066, essv13183980, essv13183813, essv13184572, essv13185153, essv13185705, essv13184443, essv13183793, essv13185680, essv13184107, essv13185102, essv13185220, essv13184171, essv13183778, essv13185263, essv13184083, essv13183781, essv13184463, essv13185339, essv13184813, essv13185357, essv13185656, essv13185210, essv13184570, essv13183854, essv13185727, essv13184271, essv13183788, essv13185400, essv13185033, essv13183916, essv13183836, essv13185780, essv13185591, essv13183898, essv13185195, essv13185104, essv13184289, essv13183997, essv13185696, essv13184787, essv13184487, essv13185350, essv13184830, essv13185647, essv13185452, essv13185443, essv13185074, essv13183910, essv13184417, essv13184776, essv13184053, essv13185791, essv13185151, essv13184274, essv13183888, essv13185794, essv13184571, essv13185454, essv13185180, essv13184468, essv13184619, essv13184961, essv13184507, essv13184350, essv13184450, essv13183863, essv13185720, essv13184260, essv13184775, essv13185796, essv13184931, essv13184135, essv13184484, essv13184016, essv13184139, essv13185753, essv13184345, essv13183760, essv13184788, essv13185552, essv13184882, essv13184058, essv13184825, essv13183819, essv13185179, essv13184237, essv13185737, essv13185489, essv13185385, essv13185253, essv13184960, essv13184465, essv13185787, essv13184743, essv13184697, essv13183770, essv13184672, essv13185194, essv13184042, essv13183994, essv13183942, essv13184815, essv13184657, essv13185541, essv13183762, essv13185469, essv13183919, essv13185254, essv13184771, essv13184733, essv13185715, essv13184963, essv13184905, essv13184558, essv13184054, essv13183758, essv13184123, essv13184562, essv13184296, essv13183963, essv13185413, essv13184790, essv13184392, essv13184578, essv13184646, essv13185745, essv13184068, essv13185602, essv13185597, essv13185135, essv13185738, essv13184073, essv13184499, essv13183784, essv13184999, essv13184675, essv13184132, essv13184621, essv13184553, essv13184199, essv13185418, essv13184811, essv13184252, essv13184693, essv13185587, essv13184734, essv13184875, essv13185501, essv13183921, essv13184532, essv13185025, essv13183752, essv13184987, essv13184602, essv13183979, essv13185317, essv13183775, essv13185138, essv13185747, essv13185402, essv13184802, essv13184782, essv13184575, essv13184935, essv13183926, essv13185252, essv13185216, essv13184203, essv13184163, essv13183757, essv13184505, essv13185127, essv13184367, essv13184195, essv13185328, essv13184462, essv13184795, essv13184408, essv13185088, essv13185655, essv13184648, essv13184019, essv13184121, essv13185628, essv13185016, essv13185711, essv13184388, essv13183868, essv13184610, essv13183799, essv13185038, essv13185235, essv13184727, essv13184547, essv13185249, essv13185229, essv13183829, essv13185688, essv13184342, essv13185651, essv13185306, essv13184414, essv13185021, essv13184630, essv13183801, essv13185335, essv13184439, essv13184056, essv13185403, essv13185663, essv13184592, essv13185767, essv13185084, essv13185529, essv13184841, essv13185708, essv13184984, essv13185752, essv13185487, essv13185293, essv13184180, essv13184606, essv13184806, essv13184583, essv13183774, essv13184598, essv13184579, essv13185584, essv13184946, essv13184637, essv13185285, essv13184228, essv13184385, essv13185467, essv13184046, essv13185214, essv13184311, essv13185428, essv13185391, essv13185788, essv13185331, essv13184313, essv13184257, essv13183805, essv13185318, essv13184804, essv13183845, essv13185776, essv13184626, essv13185164, essv13184136, essv13185421, essv13185237, essv13184988, essv13185112, essv13183855, essv13185096, essv13184884, essv13185742, essv13184593, essv13184691, essv13184183, essv13184627, essv13185486, essv13184263, essv13184331, essv13185542, essv13185484, essv13184088, essv13183965, essv13184907, essv13184836, essv13184708, essv13185284, essv13185258, essv13185547, essv13185213, essv13184258, essv13185115, essv13184011, essv13184925, essv13185330, essv13184714, essv13183959, essv13183983, essv13183773, essv13183883, essv13184879, essv13184194, essv13185101, essv13183903, essv13184696, essv13184765, essv13184375, essv13185425, essv13185046, essv13184766, essv13185116, essv13185466, essv13184451, essv13184304, essv13184659, essv13184208, essv13184407, essv13185409, essv13184692, essv13185481, essv13185373, essv13185483, essv13185242, essv13185473, essv13185702, essv13183999, essv13183952, essv13184059, essv13185281, essv13184854, essv13184685, essv13185069, essv13184048, essv13183971, essv13184945, essv13184382, essv13184664, essv13185634, essv13184087, essv13185256, essv13184239, essv13185685, essv13185085, essv13185446, essv13185128, essv13184917, essv13185665, essv13185366, essv13183782, essv13185713, essv13184792, essv13184006, essv13185679, essv13185444, essv13184649, essv13185363, essv13184981, essv13183924, essv13184009, essv13183927, essv13184871, essv13184758, essv13184276, essv13184794, essv13184667, essv13185644, essv13184818, essv13183865, essv13184770, essv13184231, essv13184986, essv13184406, essv13185477, essv13184502, essv13184968, essv13184546, essv13184974, essv13184369, essv13185698, essv13184640, essv13185676, essv13185526, essv13185383, essv13184321, essv13184005, essv13185434, essv13185304, essv13184413, essv13184699, essv13184937, essv13183872, essv13185545, essv13185538, essv13184829, essv13185348, essv13184717, essv13185007, essv13183776, essv13185766, essv13185289, essv13184013, essv13184817, essv13184709, essv13185539, essv13184137, essv13185480, essv13184370, essv13185347, essv13183984, essv13185429, essv13185784, essv13184337, essv13185580, essv13184415, essv13185595, essv13185569, essv13185206, essv13184475, essv13183867, essv13184092, essv13185295, essv13185739, essv13185319, essv13185797, essv13185608, essv13185518, essv13185114, essv13184099, essv13183885, essv13185133, essv13184904, essv13184951, essv13185241, essv13183837, essv13183947, essv13185048, essv13185113, essv13184357, essv13183985, essv13184919, essv13184234, essv13184225, essv13183768, essv13184995, essv13184265, essv13185631, essv13184569, essv13183811, essv13185035, essv13184207, essv13184076, essv13184900, essv13185369, essv13184275, essv13185405, essv13185103, essv13184144, essv13185336, essv13184506, essv13184971, essv13185792, essv13184896, essv13185286, essv13184269, essv13184957, essv13185640, essv13185125, essv13185760, essv13185669, essv13184071, essv13183989, essv13184129, essv13184025, essv13184236, essv13185341, essv13185535, essv13184958, essv13185632, essv13184814, essv13183896, essv13184914, essv13184097, essv13184081, essv13185775, essv13184932, essv13183815, essv13185152, essv13184012, essv13183840, essv13184584, essv13185160, essv13184754, essv13184448, essv13184704, essv13185255, essv13185648, essv13184893, essv13184102, essv13185109, essv13184044, essv13185683, essv13184666, essv13184715, essv13184363, essv13185371, essv13184560, essv13184184, essv13184650, essv13185732, essv13184872, essv13184585, essv13184684, essv13185790, essv13185508, essv13184467, essv13184910, essv13185091, essv13184347, essv13185187, essv13184024, essv13185601, essv13183796, essv13184912, essv13185490, essv13185375, essv13184399, essv13184436, essv13184473, essv13183990, essv13184038, essv13185415, essv13184778, essv13184735, essv13184632, essv13184548, essv13184187, essv13184205, essv13185585, essv13185736, essv13184939, essv13183830, essv13184130, essv13184437, essv13184041, essv13185217, essv13183827, essv13184485, essv13185068, essv13183889, essv13184285, essv13185119, essv13184248, essv13184938, essv13185140, essv13185537, essv13184799, essv13184527, essv13185027, essv13184360, essv13184278, essv13185015, essv13184682, essv13184587, essv13184010, essv13185233, essv13185781, essv13183998, essv13185789, essv13185095, essv13185599, essv13184662, essv13184755, essv13184681, essv13184440, essv13185316, essv13185211, essv13185313, essv13184243, essv13185579, essv13185759, essv13184340, essv13185724, essv13185185, essv13184563, essv13185059, essv13184189, essv13185731, essv13185754, essv13184366, essv13184142, essv13183956, essv13183792, essv13184075, essv13183764, essv13184724, essv13184326, essv13184241, essv13185643, essv13185721, essv13185224, essv13185326, essv13185321, essv13184503, essv13185681, essv13184373, essv13184501, essv13184154, essv13184007, essv13185207, essv13183901, essv13185407, essv13184333, essv13185003, essv13185743, essv13185009, essv13185576, essv13184634, essv13184751, essv13184489, essv13184100, essv13185144, essv13184390, essv13183814, essv13185596, essv13184594, essv13183915, essv13184824, essv13184773, essv13184604, essv13184165, essv13183862, essv13184051, essv13184541, essv13184229, essv13185386, essv13185614, essv13184138, essv13185329, essv13183932, essv13184444, essv13185543, essv13185609, essv13184529, essv13184122, essv13185177, essv13183964, essv13185124, essv13183756, essv13185762, essv13185502, essv13185744, essv13184669, essv13184647, essv13184353, essv13184153, essv13184351, essv13184120, essv13185287, essv13185247, essv13185232, essv13185075, essv13185055, essv13184174, essv13184731, essv13183771, essv13185221, essv13184678, essv13185482, essv13184254, essv13183957, essv13184780, essv13184590, essv13184810, essv13184233, essv13184840, essv13185417, essv13184518, essv13184459, essv13183755, essv13185349, essv13185741, essv13185343, essv13184325, essv13184055, essv13184452, essv13184511, essv13183779, essv13184455, essv13184147, essv13185660, essv13183967, essv13185123, essv13184698, essv13184267, essv13184422, essv13183750, essv13184703, essv13184519, essv13184434, essv13184318, essv13185097, essv13185571, essv13184143, essv13184212, essv13185257, essv13184791, essv13184565, essv13184178, essv13185283, essv13185488, essv13183795, essv13184942, essv13185492, essv13185677, essv13184078, essv13184150, essv13185410, essv13184017, essv13185215, essv13184796, essv13185399, essv13184663, essv13184966, essv13185315, essv13185583, essv13184449, essv13185610, essv13184549, essv13183945, essv13185269, essv13185041, essv13184858, essv13185589, essv13185219, essv13184124, essv13184955, essv13184837, essv13184671, essv13184371, essv13184535, essv13184380, essv13185701, essv13184861, essv13185555, essv13183806, essv13185176, essv13184820, essv13183875, essv13185081, essv13185556, essv13185083, essv13185509, essv13183831, essv13184084, essv13184400, essv13184302, essv13184740, essv13184270, essv13183754, essv13184629, essv13184530, essv13185272, essv13184128, essv13183886, essv13185622, essv13184582, essv13184232, essv13184860, essv13185718, essv13184600, essv13185131, essv13185266, essv13184876, essv13185279, essv13184244, essv13185218, essv13184544, essv13183935, essv13185204, essv13184500, essv13185712, essv13183953, essv13184211, essv13185578, essv13185165, essv13183803, essv13184870, essv13184477, essv13184622, essv13185522, essv13184705, essv13183790, essv13185573, essv13184291, essv13185497, essv13185142, essv13185514, essv13183857, essv13184226, essv13185161, essv13184638, essv13185474, essv13184636, essv13185147, essv13184322, essv13183931, essv13184402, essv13184568, essv13185077, essv13184464, essv13184887, essv13184523, essv13183769, essv13185110, essv13183866, essv13185028, essv13184719, essv13185726, essv13184052, essv13184725, essv13184111, essv13185090, essv13183810, essv13184409, essv13184238, essv13184410, essv13183849, essv13183791, essv13185412, essv13185302, essv13184801, essv13184812, essv13183978, essv13184760, essv13184146, essv13185225, essv13184744, essv13184517, essv13184855, essv13185641, essv13184470, essv13184118, essv13184393, essv13184978, essv13185525, essv13185384, essv13184542, essv13183808, essv13185548, essv13185588, essv13185322, essv13184125, essv13183759, essv13185184, essv13183802, essv13185521, essv13184032, essv13185332, essv13184329, essv13183939, essv13185435, essv13185132, essv13184850, essv13185047, essv13184772, essv13184420, essv13184262, essv13184197, essv13184327, essv13185456, essv13185167, essv13184198, essv13183870, essv13184117, essv13184026, essv13185008, essv13185673, essv13185037, essv13184164, essv13183988, essv13184094, essv13184435, essv13185011, essv13185162, essv13184793, essv13183899, essv13184119, essv13183900, essv13185633, essv13184355, essv13184580, essv13184334, essv13184246, essv13184454, essv13184015, essv13184577, essv13184218, essv13184227, essv13185431, essv13184496, essv13183884, essv13184372, essv13185795, essv13185166, essv13184901, essv13185080, essv13185572, essv13185262, essv13183970, essv13183835, essv13184828, essv13184379, essv13184943, essv13184822, essv13184603, essv13184264, essv13184612, essv13184374, essv13185465, essv13184928, essv13185652, essv13184718, essv13184381, essv13185051, essv13184559, essv13184835, essv13185639, essv13183833, essv13184481, essv13184868, essv13185274, essv13185089, essv13185617, essv13185244, essv13183929, essv13184309, essv13185367, essv13185773, essv13185173, essv13185359, essv13184633, essv13183783, essv13185137, essv13185157, essv13185227, essv13185544, essv13185053, 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HG00343, HG03445, HG01617, HG00472, HG01464, NA18505, HG04161, HG01097, HG01583, HG02386, NA12383, HG03484, HG01462, NA19066, HG00242, HG00559, HG00358, NA18565, NA20514, HG02784, HG02122, HG00457, NA12340, HG00115, NA18616, NA20771, NA18602, NA18969, HG01513, HG03782, HG00663, NA20814, NA18940, HG03943, HG03808, NA20774, NA07347, HG03578, HG02054, NA21108, HG01372, HG00185, NA11930, NA20518, HG00148, HG02736, NA12044, NA11994, NA19207, NA18966, NA19722, NA18557, HG02260, HG01058, HG02623, HG01275, NA18539, HG03784, HG01124, HG02820, HG00443, HG00282, NA19403, HG00245, HG04195, HG01979, HG00132, HG00263, HG01941, HG02522, NA18534, HG01675, NA20525, HG00284, NA20867, NA19461, HG00651, HG01536, HG00531, NA19042, HG03713, HG02787, HG03631, HG00140, HG03953, HG02979, NA19761, HG01474, NA18963, NA12144, HG01680, HG00246, HG00240, NA18541, HG03653, NA12043, NA20872, NA18632, HG00383, HG00265, HG01980, HG02010, HG01131, HG01878, NA12272, HG01551, NA20530, NA20362, NA20778, NA20902, HG04099, HG01137, NA19783, NA06994, HG02694, HG00259, HG02147, NA21102, HG03733, NA19716, NA19468, HG01846, HG02107, NA18636, NA21093, HG01600, NA19080, HG01468, HG00728, NA18983, HG01111, HG02778, HG00171, NA18968, NA19063, HG04153, NA20908, NA20754, NA21120, NA19676, HG04198, HG00403, HG00881, HG03773, NA11830, HG03857, HG01098, HG00231, NA21089, NA20877, HG01773, HG02337, NA20531, NA21092, HG04002, HG00318, NA18486, HG02870, HG01465, HG00364, NA20805, NA19057, NA18596, HG03895, HG01632, HG00879, HG03944, HG03836, HG02023, HG01694, HG01140, HG03235, NA19005, HG01366, HG01070, HG03705, HG01779, NA20850, HG02491, NA20586, HG03873, HG03370, HG03885, NA18642, NA18611, HG02505, HG04214, HG03826, HG01455, NA18970, HG03897, NA06984, NA18977, HG01495, NA19917, HG03788, NA19731, HG00422, NA20845, NA20811, HG04185, HG02104, HG02073, HG03058, NA20533, HG04029, HG00264, NA10847, HG02737, NA20854, HG03785, HG02439, HG01248, HG03007, HG01595, HG01104, HG00190, HG02397, HG04107, HG01088, NA19236, HG02322, NA18915, HG00533, HG01119, NA20126, HG02968, HG02470, HG01049, NA21116, HG03021, HG01447, HG01390, NA18566, HG01311, NA19449, HG03974, HG00117, NA12827, HG02184, HG00276, HG01286, HG03755, HG00410, HG01596, NA20773, HG04188, HG02223, HG01915, NA19037, HG00278, HG00623, NA19334, NA19085, HG00107, HG01395, NA21088, HG03049, HG02654, NA18994, HG03410, HG00234, HG02052, NA20886, NA19755, HG03376, NA21104, HG01112, HG00554, HG03129, HG02006, HG03686, HG01061, HG01608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617008
Frequency
Sample Size2504
Observed Gain0
Observed Loss2049
Observed Complex0
Frequencyn/a


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