A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640496



Internal ID7027271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37418841..37422296hg38UCSC Ensembl
Innerchr17:37418991..37422146hg38UCSC Ensembl
Outerchr17:37418690..37422446hg38UCSC Ensembl
chr17:35778925..35782402hg19UCSC Ensembl
Innerchr17:35779075..35782252hg19UCSC Ensembl
Outerchr17:35778775..35782552hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383456
hg193478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15668388, essv15668034, essv15668076, essv15668026, essv15668029, essv15668035, essv15668112, essv15668101, essv15668387, essv15668322, essv15668403, essv15668295, essv15668215, essv15668048, essv15668539, essv15668548, essv15668009, essv15668399, essv15668127, essv15668438, essv15668481, essv15668005, essv15668195, essv15668202, essv15668462, essv15668123, essv15668094, essv15668049, essv15667995, essv15668291, essv15668028, essv15668456, essv15668381, essv15668152, essv15668122, essv15667955, essv15668357, essv15668329, essv15668287, essv15668257, essv15668225, essv15668169, essv15668471, essv15668416, essv15668160, essv15668578, essv15668259, essv15668247, essv15668583, essv15668490, essv15667992, essv15668280, essv15668520, essv15668059, essv15668461, essv15668505, essv15668082, essv15668568, essv15668572, essv15668214, essv15668249, essv15668037, essv15668030, essv15667985, essv15667965, essv15668095, essv15668363, essv15667984, essv15668190, essv15668088, essv15668075, essv15668141, essv15668383, essv15668229, essv15668087, essv15668507, essv15668120, essv15668174, essv15667939, essv15668482, essv15668111, essv15668212, essv15668050, essv15668346, essv15667966, essv15668272, essv15668476, essv15668316, essv15668267, essv15668246, essv15668217, essv15668131, essv15668179, essv15668011, essv15668326, essv15668138, essv15668310, essv15668019, essv15668512, essv15668367, essv15668538, essv15668175, essv15668582, essv15667987, essv15668541, essv15668435, essv15668237, essv15668232, essv15668587, essv15668208, essv15667949, essv15668464, essv15668564, essv15667940, essv15668235, essv15668104, essv15668010, essv15668409, essv15668412, essv15668292, essv15668591, essv15668020, essv15668400, essv15668061, essv15668184, essv15667990, essv15668593, essv15668390, essv15668255, essv15668264, essv15668297, essv15668308, essv15668209, essv15668109, essv15668502, essv15668376, essv15668504, essv15668044, essv15668116, essv15668284, essv15668154, essv15668144, essv15668149, essv15668424, essv15668145, essv15668441, essv15668499, essv15668337, essv15668305, essv15668355, essv15668023, essv15668196, essv15668325, essv15668198, essv15668529, essv15668364, essv15668459, essv15668070, essv15668492, essv15668025, essv15668413, essv15668156, essv15668143, essv15668278, essv15668533, essv15667983, essv15667976, essv15668191, essv15668031, essv15668200, essv15668393, essv15668318, essv15668477, essv15668595, essv15668106, essv15668405, essv15668566, essv15668365, essv15668072, essv15668493, essv15668489, essv15668372, essv15667989, essv15668125, essv15668448, essv15668457, essv15668309, essv15668480, essv15668043, essv15668185, essv15668052, essv15668136, essv15668027, essv15668524, essv15668359, essv15668021, essv15668342, essv15668055, essv15668151, essv15668299, essv15667978, essv15667960, essv15668558, essv15668555, essv15668536, essv15668398, essv15668369, essv15668269, essv15668321, essv15667953, essv15668205, essv15668008, essv15668036, essv15668271, essv15668349, essv15668340, essv15667957, essv15668007, essv15668585, essv15667980, essv15668402, essv15667954, essv15668574, essv15668396, essv15668560, essv15668442, essv15668423, essv15668474, essv15668024, essv15668386, essv15668231, essv15668589, essv15667942, essv15668311, essv15668054, essv15668334, essv15668283, essv15668115, essv15668379, essv15668302, essv15668395, essv15668380, essv15668460, essv15668327, essv15668093, essv15668317, essv15668220, essv15667941, essv15668576, essv15668458, essv15668445, essv15668273, essv15668177, essv15668135, essv15668071, essv15668590, essv15668488, essv15668470, essv15668391, essv15668554, essv15668527, essv15668244, essv15668358, essv15667945, essv15667946, essv15668218, essv15668343, essv15667956, essv15668528, essv15668487, essv15668344, essv15668289, essv15668083, essv15668286, essv15668248, essv15668253, essv15667964, essv15667967, essv15668543, essv15668421, essv15668356, essv15668199, essv15668006, essv15668130, essv15668118, essv15668588, essv15668230, essv15667971, essv15668320, essv15668328, essv15668440, essv15668473, essv15668332, essv15668432, essv15668509, essv15668384, essv15668331, essv15668347, essv15668307, essv15667948, essv15668549, essv15668084, essv15668240, essv15668078, essv15668274, essv15667982, essv15668234, essv15668077, essv15668408, essv15668404, essv15667975, essv15668183, essv15667986, essv15668207, essv15667963, essv15668150, essv15668385, essv15668097, essv15668124, essv15668534, essv15668167, essv15668159, essv15668336, essv15668330, essv15668479, essv15668443, essv15668315, essv15668241, essv15668563, essv15668045, essv15668133, essv15668500, essv15668180, essv15668335, essv15668553, essv15668498, essv15668467, essv15668239, essv15668069, essv15667968, essv15668518, essv15668192, essv15668373, essv15668119, essv15668242, essv15668221, essv15668319, essv15668102, essv15668224, essv15668586, essv15668422, essv15668188, essv15668098, essv15668575, essv15668514, essv15668436, essv15668263, essv15668389, essv15668579, essv15668277, essv15668314, essv15668058, essv15668033, essv15667970, essv15667944, essv15668164, essv15668147, essv15668039, essv15668182, essv15668570, essv15668544, essv15668252, essv15668157, essv15668092, essv15668306, essv15668523, essv15668374, essv15668176, essv15668532, essv15668012, essv15668557, essv15668132, essv15668065, essv15667952, essv15667959, essv15668074, essv15668015, essv15668261, essv15668197, essv15668506, essv15668153, essv15668491, essv15668455, essv15668165, essv15668530, essv15668223, essv15668003, essv15668022, essv15668313, essv15668350, essv15668339, essv15668293, essv15668497, essv15668250, essv15667943, essv15668485, essv15668000, essv15668450, essv15667958, essv15668496, essv15667988, essv15668166, essv15668546, essv15668245, essv15668573, essv15668100, essv15668420, essv15668178, essv15667998, essv15667979, essv15668155, essv15668531, essv15668262, essv15668394, essv15668051, essv15668377, essv15668203, essv15668194, essv15668062, essv15668041, essv15668567, essv15668187, essv15667991, essv15668418, essv15668260, essv15668206, essv15668362, essv15668515, essv15667969, essv15668168, essv15668146, essv15667974, essv15668581, essv15668486, essv15668210, essv15668545, essv15668079, essv15667981, essv15668254, essv15668085, essv15668447, essv15668540, essv15667951, essv15668090, essv15668228, essv15668547, essv15668429, essv15668513, essv15668353, essv15668351, essv15668537, essv15668370, essv15668550, essv15668469, essv15668478, essv15668449, essv15668290, essv15668114, essv15668425, essv15668559, essv15668433, essv15668236, essv15668117, essv15668057, essv15667950, essv15668063, essv15668303, essv15668561, essv15668419, essv15668565, essv15668452, essv15668368, essv15668013, essv15668437, essv15668407, essv15668040, essv15668431, essv15668086, essv15668406, essv15667994, essv15668382, essv15668099, essv15668017, essv15668312, essv15668451, essv15668338, essv15668173, essv15667993, essv15668494, essv15668434, essv15668172, essv15668018, essv15668519, essv15668508, essv15668171, essv15667947, essv15668301, essv15668569, essv15668516, essv15668522, essv15668430, essv15668352, essv15668288, essv15668128, essv15668552, essv15668454, essv15668080, essv15668227, essv15668201, essv15668186, essv15668285, essv15668142, essv15668053, essv15668345, essv15668238, essv15668584, essv15668428, essv15668411, essv15668463, essv15668121, essv15667961, essv15668046, essv15668511, essv15668226, essv15668551, essv15668446, essv15668415, essv15668521, essv15668181, essv15668472, essv15667997, essv15668348, essv15668592, essv15668517, essv15668571, essv15668371, essv15668016, essv15668073, essv15668580, essv15668233, essv15668475, essv15668211, essv15668466, essv15668047, essv15668510, essv15668113, essv15668392, essv15668483, essv15668068, essv15668219, essv15668107, essv15668129, essv15668089, essv15668296, essv15668535, essv15668170, essv15668042, essv15668410, essv15668108, essv15668375, essv15668378, essv15667996, essv15668465, essv15668282, essv15668503, essv15668414, essv15668361, essv15668268, essv15668276, essv15668110, essv15668401, essv15668222, essv15668294, essv15668134, essv15668081, essv15668014, essv15668501, essv15668216, essv15667977, essv15668397, essv15668060, essv15668333, essv15668064, essv15668103, essv15668251, essv15668270, essv15668256, essv15668126, essv15668360, essv15668001, essv15668453, essv15667973, essv15668417, essv15668163, essv15668105, essv15668366, essv15668189, essv15668341, essv15668265, essv15667972, essv15668038, essv15668577, essv15668137, essv15668161, essv15668484, essv15668323, essv15668162, essv15668526, essv15668324, essv15668594, essv15668281, essv15668427, essv15668275, essv15668444, essv15668204, essv15668439, essv15668266, essv15668243, essv15668067, essv15667999, essv15668525, essv15668426, essv15668258, essv15668279, essv15668304, essv15668298, essv15668300, essv15668542, essv15668495, essv15668158, essv15668140, essv15667962, essv15668032, essv15668139, essv15668002, essv15668354, essv15668213, essv15668066, essv15668004, essv15668148, essv15668091, essv15668556, essv15668468, essv15668193, essv15668562, essv15668096, essv15668056, essv15668596
SamplesHG00189, HG01850, HG00650, NA19058, NA20529, NA21111, HG00608, NA18621, HG03228, HG01443, HG04222, NA21099, HG03687, HG03175, HG03517, NA21100, HG01326, HG00257, HG03449, HG00151, NA18528, HG03941, HG02691, HG03616, HG02017, NA18878, HG03295, HG02382, NA18530, HG03193, HG02040, HG01518, HG02356, NA18633, HG03069, HG01873, HG00138, NA19089, HG03645, HG01350, HG01325, HG00356, HG00589, HG00122, HG02069, NA20589, HG02140, HG02156, HG01766, NA20911, NA18993, HG00129, NA18574, HG03874, HG01063, HG03978, HG00537, NA18949, HG04033, HG02562, HG00130, NA20759, HG03817, HG02389, HG02588, HG02178, NA19239, HG00323, HG01967, HG01550, NA20515, NA20755, HG02134, HG02879, HG01164, HG00137, NA20800, HG01847, NA18538, HG03685, NA19056, HG02070, HG04039, HG02142, HG01857, HG02380, HG01684, NA20810, NA20760, HG03711, HG03491, HG01845, HG03900, HG01498, NA20832, NA18572, HG01796, NA12234, HG01630, NA20876, HG03823, NA18537, HG01102, HG00690, HG00404, HG03951, HG00331, NA11840, HG01613, NA19750, NA19059, HG04063, HG03451, HG02724, HG02286, HG01936, NA18531, HG04118, HG01988, NA18593, HG01811, HG01597, NA21144, NA18564, HG03875, NA18628, HG00580, HG01874, NA19010, HG03869, HG02464, HG01798, HG00116, NA18943, HG02580, HG02188, HG02133, HG03729, HG01861, NA20906, NA19117, HG03600, HG00614, HG02379, HG02128, HG02373, HG00478, HG01804, HG00112, HG03470, HG01914, HG01794, NA20503, HG02353, HG01756, HG00628, NA19065, HG03985, HG01509, NA19074, HG00581, NA18577, HG03989, HG03690, HG00626, NA20874, HG01060, HG00114, HG01746, NA19648, HG00121, HG01961, NA18592, HG02648, HG02035, HG04202, NA18603, NA12045, HG03558, HG02360, HG00699, HG00452, NA18625, HG04164, HG02394, NA20808, HG00341, NA20507, HG02734, NA18526, NA12400, HG02285, HG00109, NA18489, NA18595, HG00689, HG02541, HG03937, HG03765, HG02687, HG00458, HG00330, HG01843, HG01710, HG00634, HG01816, HG00610, HG01354, NA19054, HG03911, HG01848, HG03762, HG01110, HG03594, HG00590, NA20541, HG03830, HG03793, NA19922, HG03868, HG01134, NA18749, HG00120, HG02395, HG02315, HG00106, HG01170, HG00236, NA19719, NA20340, HG04106, HG01046, NA19075, NA18617, HG03777, HG01892, HG02420, NA19002, HG03744, HG02138, NA20764, NA18908, HG00530, HG00464, HG00108, HG02819, NA20818, HG00543, HG02402, NA18613, NA19657, HG02136, HG00183, HG00982, NA20858, HG01797, NA12342, HG03644, HG02090, HG03760, HG01790, NA20809, NA18644, NA20536, NA19391, NA18991, HG00475, HG02554, HG00584, HG02953, HG00500, NA21118, HG01880, NA19776, HG01948, HG02789, HG01777, HG01619, HG01414, NA19000, HG00844, HG02817, HG00373, HG02494, HG01197, HG02048, HG01707, HG01383, NA18946, HG03854, HG02081, HG01403, HG01865, NA19160, NA18536, HG02408, HG02399, HG03940, NA18646, HG01700, NA21143, HG01363, NA19401, NA20801, NA18535, NA18952, HG01954, NA19749, HG02064, HG01800, HG01362, HG02837, NA07051, HG00631, HG01205, NA18629, HG03012, NA19786, NA18591, HG00319, HG00256, HG03681, HG02181, NA19818, HG03039, HG01432, HG00446, HG00409, HG03646, NA20582, HG01028, HG02646, HG00378, HG02938, HG01085, HG00174, NA18972, HG00343, HG01377, HG00472, HG01464, HG01863, HG02629, HG02343, HG01191, NA19153, HG01747, NA20761, HG02658, NA12717, HG01173, HG04096, NA12842, HG00143, HG02385, NA20508, HG01610, NA19066, NA18861, HG00559, NA20514, HG01815, NA20878, HG00315, NA20752, HG02078, NA20802, NA12340, HG00115, NA18616, HG00654, HG04156, HG01522, HG00693, HG00663, NA21135, NA18597, HG03452, HG00674, HG00599, HG00238, HG03604, HG02860, NA19062, HG01761, NA21108, HG01840, HG00334, NA20287, HG00185, NA11930, HG03619, HG01080, HG00867, HG02187, HG00232, NA12044, NA18966, HG03814, HG00118, NA18990, HG01844, HG01058, HG03784, HG00349, HG03343, HG02442, NA19908, NA18525, HG00332, NA19086, HG04195, HG00132, HG02775, HG00556, HG01142, HG00583, HG00275, NA18579, HG02522, HG03805, NA18534, HG01675, HG01889, HG00239, HG00740, NA20525, NA19654, NA20867, HG03730, HG00651, NA20866, NA18626, HG00479, HG03713, HG02787, HG03802, HG02657, HG03643, HG01593, HG00140, NA19752, HG01680, HG03898, NA18570, NA18974, NA12043, HG02660, NA19003, HG01812, NA18632, HG00254, HG00265, HG01678, HG01878, HG03695, HG01939, NA20530, HG02179, NA20544, HG03727, NA19783, HG02019, HG01489, HG03779, NA18501, NA06994, HG02694, HG02095, HG00259, HG01868, HG02235, HG01302, NA20510, NA18636, NA20786, NA20758, HG03925, HG03872, HG03077, HG01468, NA19900, NA18983, HG01431, NA18957, NA11892, NA19312, NA18623, NA19063, NA18740, HG03955, HG01927, HG00553, HG03166, NA21120, NA21091, NA18620, HG00403, NA21110, HG03800, NA11830, HG01521, NA20543, HG01438, HG02298, HG01855, HG03767, HG01280, NA20531, NA19020, HG04002, HG01465, HG03668, NA18596, HG03963, HG01456, HG03792, NA12155, NA07357, HG03680, HG01694, NA18967, HG03464, NA18944, HG03705, HG04022, HG01853, HG02155, NA19119, NA18982, NA18619, NA12348, HG03905, HG01510, HG01668, NA18964, HG02786, HG02489, NA20910, NA18611, HG02505, HG03803, HG03826, HG01067, NA19383, HG00379, NA20819, NA06984, HG01369, HG01308, HG00422, HG01440, HG00309, HG01259, NA20845, NA20811, HG02073, NA21114, NA20533, HG00739, HG01312, HG01942, NA18614, HG00313, NA20854, NA18544, HG03785, NA19210, HG03908, HG03054, HG01187, HG02233, HG01871, HG00596, HG00145, HG01595, HG02152, NA12003, HG01864, HG01271, HG02397, HG04107, HG03636, NA20895, NA18939, HG00320, HG00598, NA18637, HG03945, NA20506, HG04019, NA19658, HG02221, HG00619, HG00708, HG01092, HG02364, HG01447, HG04054, NA11894, HG02649, HG01791, HG00525, HG00321, HG00157, NA12827, HG02292, HG02184, HG02031, NA18634, NA18945, HG01530, NA20821, NA21113, HG01444, NA20522, NA18542, HG03833, HG04188, HG00285, NA18961, HG02223, HG02696, HG00357, NA18941, HG00278, HG00623, NA19773, NA12046, HG03850, HG00308, NA18643, NA20516, HG02139, NA20797, NA07037, NA06986, HG04141, HG01491, HG00656, NA18994, HG01055, HG02113, HG03684, HG03615, HG02239, HG01817, HG00234, HG02186, NA20528, HG01105, HG02028, HG03882, HG02465, NA21104, HG00554, HG01695, NA18965
Known GenesTADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640496
Frequency
Sample Size2504
Observed Gain0
Observed Loss658
Observed Complex0
Frequencyn/a


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