A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647527



Internal ID6687582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29237099..29239405hg38UCSC Ensembl
Innerchr22:29237099..29239405hg38UCSC Ensembl
Outerchr22:29237099..29239405hg38UCSC Ensembl
chr22:29633088..29635394hg19UCSC Ensembl
Innerchr22:29633088..29635394hg19UCSC Ensembl
Outerchr22:29633088..29635394hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16398423, essv16398513, essv16398192, essv16398450, essv16398439, essv16398005, essv16398030, essv16398362, essv16397915, essv16398447, essv16398128, essv16397914, essv16398283, essv16398163, essv16398388, essv16398596, essv16398375, essv16398307, essv16398127, essv16397990, essv16398173, essv16398438, essv16398282, essv16397898, essv16398017, essv16398446, essv16397906, essv16398132, essv16398412, essv16398237, essv16397925, essv16398004, essv16398146, essv16398462, essv16398309, essv16398050, essv16397940, essv16397879, essv16398624, essv16397917, essv16398098, essv16398210, essv16398391, essv16398411, essv16397891, essv16398082, essv16398363, essv16398169, essv16398108, essv16398286, essv16398253, essv16398541, essv16398277, essv16398373, essv16398109, essv16398037, essv16398032, essv16397979, essv16398126, essv16398429, essv16398064, essv16398090, essv16398226, essv16398407, essv16398543, essv16398645, essv16397904, essv16398068, essv16398016, essv16397933, essv16398628, essv16398196, essv16398111, essv16398622, essv16398319, essv16398509, essv16398313, essv16398463, essv16397975, essv16398165, essv16398322, essv16398580, essv16397958, essv16398119, essv16398190, essv16398604, essv16398060, essv16398361, essv16398372, essv16397899, essv16397982, essv16398205, essv16397942, essv16398115, essv16398589, essv16398204, essv16398633, essv16397957, essv16398426, essv16398359, essv16398154, essv16398235, essv16398097, essv16398294, essv16398588, essv16397900, essv16398564, essv16397988, essv16398333, essv16398162, essv16398239, essv16398603, essv16398442, essv16398129, essv16398630, essv16398514, essv16398142, essv16398452, essv16397901, essv16398515, essv16398457, essv16398052, essv16398492, essv16397974, essv16398157, essv16398049, essv16398647, essv16397883, essv16398138, essv16398240, essv16398392, essv16398348, essv16397909, essv16398284, essv16398590, essv16398481, essv16398171, essv16397908, essv16398065, essv16398244, essv16398186, essv16398139, essv16398475, essv16398175, essv16398318, essv16398150, essv16398432, essv16398161, essv16398555, essv16397910, essv16397880, essv16398384, essv16398303, essv16398268, essv16398499, essv16397945, essv16397961, essv16398380, essv16398525, essv16398220, essv16398305, essv16398413, essv16398182, essv16397897, essv16398346, essv16398290, essv16397923, essv16398266, essv16398578, essv16398046, essv16398635, essv16398058, essv16398254, essv16398507, essv16398387, essv16398625, essv16398123, essv16397981, essv16397954, essv16398299, essv16398015, essv16398473, essv16398571, essv16398008, essv16398491, essv16398501, essv16398427, essv16398267, essv16398028, essv16398551, essv16398101, essv16398531, essv16397999, essv16398331, essv16398430, essv16398465, essv16398398, essv16398344, essv16397903, essv16398075, essv16398328, essv16398314, essv16398524, essv16398627, essv16398252, essv16398236, essv16398612, essv16398487, essv16398414, essv16397987, essv16398352, essv16398494, essv16398085, essv16398585, essv16398358, essv16398608, essv16398417, essv16397998, essv16398320, essv16398550, essv16398174, essv16398243, essv16398422, essv16398365, essv16398197, essv16397886, essv16398455, essv16398312, essv16397918, essv16398214, essv16397913, essv16398323, essv16398279, essv16398638, essv16397932, essv16398308, essv16398574, essv16398010, essv16398067, essv16398086, essv16398321, essv16398099, essv16398399, essv16398357, essv16398385, essv16398194, essv16398003, essv16398069, essv16398083, essv16398263, essv16398072, essv16398224, essv16398558, essv16397964, essv16398583, essv16398260, essv16398053, essv16398022, essv16398031, essv16398269, essv16398188, essv16398281, essv16398395, essv16398621, essv16398490, essv16397948, essv16398057, essv16398366, essv16398334, essv16398570, essv16397989, essv16398056, essv16398045, essv16398483, essv16397952, essv16398573, essv16398634, essv16398593, essv16398249, essv16398544, essv16398587, essv16398225, essv16398137, essv16398230, essv16398506, essv16398467, essv16398051, essv16398609, essv16398025, essv16398221, essv16398553, essv16398229, essv16398615, essv16398451, essv16398043, essv16397953, essv16398255, essv16398376, essv16397944, essv16398297, essv16398642, essv16398332, essv16398102, essv16398534, essv16397924, essv16397943, essv16398336, essv16398539, essv16398488, essv16398203, essv16398389, essv16397887, essv16398466, essv16398547, essv16398259, essv16397907, essv16398341, essv16398498, essv16398371, essv16398291, essv16398538, essv16397992, essv16397970, essv16398007, essv16398643, essv16398339, essv16397965, essv16398027, essv16398039, essv16398342, essv16398018, essv16398418, essv16398431, essv16397882, essv16397919, essv16398105, essv16398258, essv16398112, essv16398537, essv16398626, essv16397920, essv16398078, essv16398545, essv16398464, essv16398476, essv16398356, essv16398034, essv16398535, essv16397894, essv16398070, essv16398193, essv16397966, essv16398302, essv16398548, essv16398084, essv16398646, essv16398036, essv16397928, essv16398079, essv16398130, essv16398508, essv16398394, essv16398557, essv16397937, essv16398440, essv16398335, essv16398110, essv16398527, essv16398251, essv16398306, essv16398095, essv16398176, essv16398151, essv16398595, essv16398120, essv16398116, essv16398611, essv16398177, essv16398160, essv16398265, essv16398081, essv16397877, essv16398435, essv16398347, essv16398080, essv16398378, essv16398124, essv16398533, essv16398216, essv16398280, essv16398234, essv16398560, essv16398019, essv16398520, essv16398185, essv16398568, essv16398199, essv16398393, essv16397956, essv16398386, essv16398012, essv16397881, essv16398521, essv16398133, essv16398631, essv16398605, essv16398470, essv16398343, essv16398208, essv16398063, essv16398324, essv16398038, essv16398117, essv16398460, essv16398607, essv16398408, essv16397941, essv16398158, essv16398257, essv16398271, essv16398453, essv16398614, essv16397969, essv16397884, essv16398044, essv16398262, essv16398532, essv16397986, essv16398554, essv16398577, essv16397950, essv16398485, essv16398059, essv16397995, essv16398540, essv16398562, essv16398456, essv16398632, essv16398076, essv16398000, essv16398245, essv16398479, essv16398140, essv16398518, essv16397968, essv16398300, essv16398355, essv16398071, essv16398549, essv16398159, essv16398315, essv16398288, essv16398202, essv16398519, essv16398020, essv16398478, essv16398228, essv16398033, essv16398458, essv16398536, essv16398421, essv16398278, essv16398459, essv16398047, essv16398606, essv16397996, essv16397984, essv16398598, essv16398436, essv16398444, essv16398327, essv16398287, essv16398445, essv16398381, essv16398486, essv16398073, essv16398510, essv16398530, essv16398401, essv16398241, essv16398511, essv16397939, essv16398134, essv16398092, essv16398104, essv16398326, essv16398617, essv16398379, essv16397983, essv16398428, essv16398002, essv16398370, essv16398143, essv16398637, essv16397960, essv16397912, essv16397997, essv16398048, essv16398055, essv16398136, essv16397878, essv16398599, essv16398141, essv16398567, essv16398461, essv16398477, essv16398166, essv16398576, essv16398222, essv16398552, essv16398153, essv16398195, essv16398616, essv16398489, essv16398145, essv16397985, essv16398184, essv16398024, essv16398337, essv16398209, essv16398454, essv16397921, essv16398569, essv16398396, essv16398233, essv16398594, essv16398644, essv16398636, essv16398191, essv16398330, essv16397916, essv16397946, essv16398502, essv16398094, essv16398368, essv16397962, essv16398238, essv16398310, essv16398274, essv16398301, essv16398469, essv16398103, essv16397902, essv16398107, essv16397896, essv16397980, essv16397978, essv16398503, essv16398148, essv16398270, essv16397926, essv16398296, essv16397973, essv16398575, essv16398292, essv16398041, essv16398181, essv16398135, essv16398610, essv16398480, essv16398264, essv16397890, essv16398484, essv16397893, essv16398619, essv16398528, essv16397972, essv16397892, essv16398042, essv16398404, essv16398433, essv16398565, essv16398517, essv16398523, essv16398340, essv16398561, essv16398248, essv16398304, essv16397922, essv16398223, essv16397971, essv16397927, essv16398218, essv16398629, essv16398180, essv16398390, essv16398006, essv16398338, essv16398522, essv16398298, essv16397977, essv16398023, essv16398516, essv16398246, essv16397951, essv16397929, essv16398316, essv16397935, essv16398212, essv16398364, essv16398295, essv16397963, essv16398096, essv16398029, essv16398409, essv16398420, essv16398272, essv16398581, essv16397991, essv16398001, essv16398021, essv16398121, essv16398219, essv16398424, essv16398529, essv16398250, essv16398640, essv16398641, essv16398100, essv16398400, essv16398449, essv16398354, essv16397931, essv16398131, essv16398198, essv16398397, essv16398217, essv16397994, essv16398620, essv16398504, essv16398261, essv16397955, essv16398113, essv16398054, essv16398592, essv16398415, essv16397889, essv16398201, essv16398526, essv16398125, essv16398122, essv16398374, essv16397993, essv16398164, essv16397976, essv16398556, essv16397936, essv16398405, essv16398170, essv16398152, essv16398496, essv16398317, essv16397947, essv16398482, essv16398351, essv16398200, essv16398497, essv16398106, essv16398215, essv16398311, essv16397938, essv16398546, essv16397949, essv16398114, essv16398582, essv16398448, essv16398273, essv16398061, essv16398602, essv16398207, essv16398434, essv16398011, essv16398495, essv16398613, essv16397959, essv16398383, essv16398227, essv16398345, essv16398572, essv16398600, essv16398256, essv16398149, essv16398213, essv16397905, essv16398275, essv16398402, essv16398559, essv16398088, essv16397967, essv16397930, essv16398406, essv16398563, essv16398211, essv16397934, essv16398276, essv16398325, essv16398074, essv16398289, essv16398382, essv16398566, essv16398419, essv16398410, essv16398035, essv16398144, essv16398601, essv16398147, essv16398403, essv16398623, essv16398471, essv16398505, essv16398597, essv16398118, essv16398474, essv16398377, essv16398167, essv16398493, essv16398500, essv16398089, essv16398242, essv16398639, essv16398091, essv16398441, essv16398189, essv16398014, essv16398009, essv16398026, essv16398178, essv16398353, essv16398443, essv16398066, essv16398062, essv16398179, essv16398350, essv16398329, essv16398247, essv16397885, essv16398156, essv16398087, essv16398093, essv16398618, essv16398168, essv16398077, essv16398586, essv16398584, essv16398187, essv16398591, essv16398360, essv16398437, essv16398369, essv16398231, essv16398367, essv16398040, essv16398232, essv16398206, essv16398013, essv16398155, essv16398293, essv16398579, essv16398512, essv16398468, essv16397888, essv16397895, essv16398425, essv16398172, essv16398542, essv16398285, essv16397911, essv16398416, essv16398349, essv16398472, essv16398183
SamplesNA18642, HG02879, HG01878, HG02317, NA18870, NA20876, HG03015, NA20351, HG02330, HG03646, HG02649, HG03382, NA18951, NA19089, HG01811, HG03351, HG03729, HG01896, NA18871, HG01988, NA18523, HG01089, HG00500, HG00186, NA12347, HG00565, HG01800, NA20346, HG02255, NA19435, HG02139, HG02450, NA20296, HG01403, HG03452, HG03896, HG04056, HG01325, NA19334, HG02681, NA19331, NA18517, HG04186, HG03311, HG01200, HG01605, HG02977, HG00364, HG03432, NA19144, HG02694, NA12058, HG02322, NA19320, HG04002, NA19701, HG03380, NA19236, HG02355, HG03268, HG04023, HG01860, NA18505, HG03039, NA20803, NA20853, NA19037, HG02047, HG02973, NA18868, HG02308, HG03752, HG03817, NA20412, HG03558, HG02081, HG03088, HG00158, HG00556, NA20505, HG02775, HG03461, NA12763, HG01384, NA21111, HG04144, NA19076, HG03054, HG03484, HG00421, HG00349, HG01305, NA19197, NA19443, HG02568, NA19471, HG01088, HG03559, HG04198, HG01965, NA19429, HG03793, HG03851, NA11843, NA12400, NA18637, HG04063, HG00243, NA19457, NA19086, HG03114, HG01986, NA19728, HG02236, HG03757, NA19360, NA19725, HG00267, HG02814, HG03085, NA19189, NA19372, NA18633, HG00653, HG03391, HG03922, HG03660, HG03673, NA19102, HG03547, HG02337, NA18510, HG00099, HG02558, HG03168, HG03788, HG01494, HG03072, HG03645, HG01341, HG02536, HG02339, NA19376, NA19794, NA19035, HG02645, HG03009, NA19025, HG03045, HG03716, HG02181, NA19116, HG03925, NA18631, NA20287, HG03078, HG03815, NA19818, HG00654, HG00379, HG03259, NA20886, NA18924, HG00708, NA20872, HG02445, HG02642, HG01842, HG03802, NA18908, HG00626, HG03695, HG02051, HG02505, HG01807, HG00704, HG02064, HG03907, NA19385, HG02396, NA19466, HG03006, HG03095, HG02839, HG03625, HG02715, HG03163, HG02580, HG03370, HG02890, HG01513, HG03821, NA18647, HG01459, HG03058, HG01359, HG03698, NA21142, HG00356, HG00536, NA20874, HG03706, NA20514, HG01241, HG01846, HG01675, HG02970, NA20890, HG02116, HG03521, HG01817, HG03985, NA20868, NA19222, HG03977, NA19404, HG00127, HG03342, NA18952, NA18975, HG01046, HG02023, HG02546, HG02816, NA18874, HG02407, HG01064, NA18612, HG03112, HG03437, HG02284, HG02799, HG03874, NA19310, NA19401, HG03055, NA20508, NA19090, HG00310, NA18570, NA19003, NA19023, HG02318, NA19455, HG04211, NA18639, HG02006, NA18993, NA20881, HG02979, NA19430, HG02943, NA18648, HG02260, HG03969, HG02974, HG02014, HG02048, HG03663, HG03709, HG04026, HG03046, HG03894, NA19451, HG03265, HG03212, HG04183, HG02733, NA19338, NA20342, HG01883, HG02652, HG02944, HG01049, HG03234, NA19184, HG00553, HG01286, NA19461, NA21098, HG01131, NA19210, HG00701, HG01680, HG03680, HG01188, HG01461, HG01029, HG03019, HG03229, HG03485, HG02323, NA18488, NA19474, NA19084, HG02433, HG03394, HG01843, HG03572, NA19308, NA19467, NA19147, HG00188, HG03457, NA19776, HG00479, HG03159, HG03687, NA19438, NA19043, HG01435, HG04076, HG02895, HG02003, HG01254, HG04238, HG02053, NA19726, HG04098, NA19428, HG02981, NA18912, HG03470, HG04210, HG00371, HG02360, HG03127, NA18508, HG03736, NA19323, HG01510, HG03672, NA19059, NA20819, NA20356, NA19652, HG01618, HG02009, NA19068, HG02716, NA18563, NA19900, HG01595, HG02292, NA19020, HG02968, NA12762, HG02032, HG00372, HG01851, HG01272, HG03436, HG03911, NA18856, HG01815, NA19397, HG00330, HG03844, NA07048, NA19440, NA19066, HG03965, HG00419, HG02851, HG03583, HG03871, HG03024, NA12829, NA18976, HG04099, NA19835, NA20282, HG03565, HG03027, HG03917, HG00637, NA18982, NA19681, HG00254, NA19663, NA19679, HG04227, NA20589, HG01599, HG03971, HG04185, HG00867, HG04059, HG01874, HG02283, HG03225, HG00159, HG02840, HG03902, NA20901, HG02442, HG02490, NA12046, NA21143, HG02325, HG03190, NA19172, HG03998, HG00360, HG02102, HG03209, HG01989, HG02178, NA20512, HG02562, NA19206, HG01806, HG03914, NA18498, NA18486, HG01914, HG02278, HG03511, NA20334, HG00260, HG03472, NA19713, HG01073, HG01853, HG00273, HG02401, HG04062, HG02611, HG03097, HG03619, HG01356, HG03873, NA19704, NA20814, HG01923, HG00132, HG01889, HG02771, NA19332, NA19909, HG02147, HG03428, HG03733, HG04212, NA18997, HG02384, HG02502, HG03157, HG03433, HG00341, HG02545, NA19159, NA21095, NA19307, NA19318, HG03945, NA18985, HG02690, NA19462, HG02085, HG03115, HG03943, HG02582, HG00410, HG01933, HG02406, HG03352, HG00151, HG03108, NA11832, HG03363, NA20581, HG03446, NA19038, HG01326, NA18983, HG01393, NA18907, HG01405, HG00611, HG03789, HG03790, NA18995, NA20332, NA06984, NA19394, NA19403, HG01586, HG02351, NA19764, HG03061, HG03986, NA18565, HG00663, NA19741, HG00262, NA18971, NA19434, HG01669, HG02481, NA19446, NA19452, HG03476, NA18533, NA18864, HG03240, NA19770, HG02489, HG03081, HG02465, HG02589, NA19063, NA19327, NA21117, HG03343, HG00656, HG02679, NA19160, HG02464, HG03025, HG03809, HG00422, HG03857, HG01808, NA19070, NA19118, HG02286, NA18984, NA19095, HG02485, HG02399, HG03557, HG00324, HG03388, HG02136, HG04054, NA18549, NA18574, HG03117, HG04006, NA19473, HG02391, NA06994, HG01110, HG01781, HG02574, HG03517, HG02013, HG01857, NA19092, HG03730, HG04195, NA19200, NA19750, HG03490, HG01863, NA18519, HG03824, HG03950, NA20339, HG00381, HG01067, NA19439, HG00361, HG01870, HG02282, HG02610, HG03082, HG02122, HG02808, HG03697, HG03755, NA20903, HG03968, HG00309, NA19030, HG01926, HG02882, HG02810, HG03760, HG02371, HG03668, NA19904, NA18534, HG03479, NA18630, HG00956, NA19819, HG00350, NA18966, HG00351, HG03593, HG01083, HG03563, HG03856, NA19209, NA18501, HG02549, NA20535, HG01885, NA12815, NA10847, HG03189, HG00657, HG03057, HG00614, HG00368, HG00148, NA19920, NA20321, HG03746, NA19019, HG03298, NA18489, NA21104, HG02471, HG02676, HG01708, HG03103, NA20897, HG01344, NA18963, HG02817, HG03491, HG03951, HG01861, HG00177, HG00319, HG00253, HG03109, HG04140, HG01968, NA18943, NA18628, NA19143, HG03836, HG01597, NA12414, HG03162, HG03955, HG02588, NA19463, NA18979, NA19314, HG04075, HG03451, HG00593, NA19390, HG02646, HG00308, HG00358, HG00096, HG01402, HG02554, HG00759, HG01122, HG01583, HG04153, HG01694, HG03717, HG03681, HG02385, HG02557, HG03007, HG03052, HG03464, HG01684, HG02143, HG02078, NA18916, HG00174, NA19700, NA19042, HG02737, HG03742, NA12751, HG00373, HG01242, NA19247, HG01437, HG03126, NA19395, HG01600, NA12716, NA19129, HG02185, HG02449, HG02382, HG01191, HG02768, NA20348, HG00766, NA18939, HG03473, HG03870, NA19027, HG04158, NA18968, NA18986, HG00263, HG02461, NA20852, NA21141, HG02623, HG02017, HG02501, HG02031, NA18978, HG03096, HG03366, HG03778, HG03800, NA20797, NA19328, HG01894, HG03577, HG02586, HG03118, HG02624, HG03028, HG02484, NA20525, HG01809, HG03691, NA19138, NA12272, HG04033, HG02819, NA18909, NA19201, HG00717, NA20827, HG03246, HG03238, NA12889, NA21087, HG03872, NA20318, HG00608, HG01390, HG03105, NA18614, HG03123, HG00530, NA20317, HG00285, HG02408, HG02702, NA18499, NA19732, HG04177, NA20359, HG01108, HG03718, NA19346, HG00690, HG04015, NA19204, HG02555, HG02188, NA19185, NA19454, NA19087, HG02332, HG01890, HG04182, HG02425, HG03460, HG02253, HG03091, HG01686
Known GenesEMID1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647527
Frequency
Sample Size2504
Observed Gain0
Observed Loss771
Observed Complex0
Frequencyn/a


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