A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647214



Internal ID7033955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17289393..17298175hg38UCSC Ensembl
Innerchr22:17289409..17298159hg38UCSC Ensembl
Outerchr22:17289377..17298191hg38UCSC Ensembl
chr22:17770283..17779065hg19UCSC Ensembl
Innerchr22:17770299..17779049hg19UCSC Ensembl
Outerchr22:17770267..17779081hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388783
hg198783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16354273, essv16354207, essv16354315, essv16353927, essv16354070, essv16353899, essv16353897, essv16353987, essv16354254, essv16354280, essv16354105, essv16354404, essv16354317, essv16354221, essv16354187, essv16354456, essv16354219, essv16354314, essv16354140, essv16354298, essv16354091, essv16354418, essv16354007, essv16354177, essv16354358, essv16354345, essv16354204, essv16353986, essv16354275, essv16354343, essv16354455, essv16354095, essv16353866, essv16354371, essv16353947, essv16354359, essv16354104, essv16353934, essv16354051, essv16354225, essv16354084, essv16354437, essv16354115, essv16354003, essv16353855, essv16354145, essv16354065, essv16353957, essv16354166, essv16354213, essv16354172, essv16354199, essv16354114, essv16354155, essv16354247, essv16354283, essv16354429, essv16354137, essv16354295, essv16353977, essv16354098, essv16353961, essv16354446, essv16354191, essv16354312, essv16354466, essv16354320, essv16354222, essv16354049, essv16354488, essv16354190, essv16354316, essv16354116, essv16354426, essv16354286, essv16354024, essv16354073, essv16353875, essv16353898, essv16354008, essv16354384, essv16353981, essv16354341, essv16354425, essv16354435, essv16353902, essv16353997, essv16354304, essv16353984, essv16354108, essv16354281, essv16354181, essv16354063, essv16353879, essv16354265, essv16354239, essv16354272, essv16354412, essv16354379, essv16354471, essv16354201, essv16354333, essv16353978, essv16354356, essv16354445, essv16354223, essv16353954, essv16354411, essv16354489, essv16354282, essv16354355, essv16354147, essv16354311, essv16354241, essv16353885, essv16354321, essv16354478, essv16354043, essv16354276, essv16353963, essv16353883, essv16354289, essv16354184, essv16353906, essv16353873, essv16353974, essv16354069, essv16354039, essv16354419, essv16354248, essv16354031, essv16354423, essv16354383, essv16354235, essv16353878, essv16354430, essv16354308, essv16354354, essv16354127, essv16353891, essv16354218, essv16353886, essv16354417, essv16354226, essv16354259, essv16354234, essv16354476, essv16353968, essv16354041, essv16353994, essv16354279, essv16354101, essv16354270, essv16354133, essv16354238, essv16354307, essv16354428, essv16354021, essv16354122, essv16354111, essv16354357, essv16354470, essv16354176, essv16354399, essv16354010, essv16354322, essv16353921, essv16354097, essv16353925, essv16353935, essv16354011, essv16354169, essv16354148, essv16353938, essv16353894, essv16353860, essv16353923, essv16354001, essv16354129, essv16354381, essv16354372, essv16353849, essv16354182, essv16354467, essv16354461, essv16353845, essv16354151, essv16354363, essv16354338, essv16354330, essv16354161, essv16354334, essv16354071, essv16353901, essv16354405, essv16354053, essv16354131, essv16353933, essv16354240, essv16353922, essv16354185, essv16354387, essv16354035, essv16353964, essv16354012, essv16354408, essv16354055, essv16353890, essv16354167, essv16354256, essv16354126, essv16354192, essv16354052, essv16354149, essv16354200, essv16354299, essv16354243, essv16354398, essv16354277, essv16354142, essv16353989, essv16354025, essv16354244, essv16354066, essv16354075, essv16354203, essv16354047, essv16354364, essv16353872, essv16354263, essv16354174, essv16353973, essv16354290, essv16354463, essv16354328, essv16353958, essv16354258, essv16353862, essv16354432, essv16354117, essv16353884, essv16353926, essv16354162, essv16353956, essv16354360, essv16354482, essv16354310, essv16354439, essv16353863, essv16353990, essv16354000, essv16354092, essv16354458, essv16354123, essv16354082, essv16354206, essv16354006, essv16353912, essv16354326, essv16354309, essv16353993, essv16354236, essv16354198, essv16353915, essv16354109, essv16354019, essv16354165, essv16353882, essv16354442, essv16354392, essv16354128, essv16354329, essv16354135, essv16354331, essv16354477, essv16354171, essv16354424, essv16354194, essv16353865, essv16354061, essv16354231, essv16354348, essv16353970, essv16353858, essv16354188, essv16354268, essv16354306, essv16354292, essv16354081, essv16354018, essv16354205, essv16354327, essv16354493, essv16354229, essv16354214, essv16354485, essv16354351, essv16354072, essv16354232, essv16354057, essv16354034, essv16354447, essv16354361, essv16354228, essv16354422, essv16353896, essv16354215, essv16354110, essv16354340, essv16354391, essv16353895, essv16353919, essv16354038, essv16354490, essv16354260, essv16353893, essv16354246, essv16354209, essv16354441, essv16353911, essv16354415, essv16354152, essv16353869, essv16353876, essv16354168, essv16354400, essv16354249, essv16354454, essv16353991, essv16354112, essv16353871, essv16353900, essv16354459, essv16353982, essv16354216, essv16354362, essv16353952, essv16354242, essv16353979, essv16354090, essv16354113, essv16354474, essv16354245, essv16353945, essv16353903, essv16354059, essv16354287, essv16354318, essv16354274, essv16354227, essv16354300, essv16354154, essv16354472, essv16354378, essv16354453, essv16354252, essv16354451, essv16354440, essv16354255, essv16353955, essv16354074, essv16354153, essv16354125, essv16354427, essv16353951, essv16354089, essv16354271, essv16354414, essv16354068, essv16354093, essv16354339, essv16354141, essv16353983, essv16353992, essv16354197, essv16353905, essv16353948, essv16354436, essv16354023, essv16353868, essv16354086, essv16353995, essv16354060, essv16354193, essv16354433, essv16354389, essv16354202, essv16354159, essv16354045, essv16354444, essv16353939, essv16354033, essv16354462, essv16354013, essv16354385, essv16353857, essv16353887, essv16354469, essv16354230, essv16353943, essv16353910, essv16353946, essv16354420, essv16354124, essv16354044, essv16354036, essv16353907, essv16354037, essv16353998, essv16353944, essv16354410, essv16354324, essv16354178, essv16353965, essv16354421, essv16354406, essv16354380, essv16354278, essv16353877, essv16354253, essv16354337, essv16354217, essv16354401, essv16354293, essv16354175, essv16354139, essv16354087, essv16354375, essv16354121, essv16354373, essv16354460, essv16353985, essv16354486, essv16353888, essv16354369, essv16354479, essv16354269, essv16354094, essv16354020, essv16354386, essv16354130, essv16354150, essv16354100, essv16354146, essv16354368, essv16354332, essv16354296, essv16354395, essv16354267, essv16353889, essv16354210, essv16354220, essv16353850, essv16354294, essv16354475, essv16353960, essv16354028, essv16353852, essv16354046, essv16353914, essv16354397, essv16354040, essv16354157, essv16354002, essv16354077, essv16354319, essv16354160, essv16354014, essv16354335, essv16354262, essv16353967, essv16353913, essv16353864, essv16353988, essv16354079, essv16354390, essv16354211, essv16354366, essv16354120, essv16354443, essv16354257, essv16354022, essv16354132, essv16354158, essv16354347, essv16354196, essv16353962, essv16354096, essv16353932, essv16354251, essv16354297, essv16354481, essv16354284, essv16354303, essv16353980, essv16354029, essv16354016, essv16353880, essv16354102, essv16354083, essv16354288, essv16354058, essv16354365, essv16353975, essv16354088, essv16353892, essv16354042, essv16354136, essv16354264, essv16354349, essv16353966, essv16354394, essv16353847, essv16353953, essv16354450, essv16354107, essv16354468, essv16354374, essv16353924, essv16354452, essv16354261, essv16354103, essv16354054, essv16354026, essv16354353, essv16354438, essv16353861, essv16354119, essv16353937, essv16354393, essv16354189, essv16354156, essv16354483, essv16354487, essv16354195, essv16354180, essv16354342, essv16354212, essv16354457, essv16354050, essv16354017, essv16353870, essv16353941, essv16354431, essv16354237, essv16354305, essv16354352, essv16353881, essv16354382, essv16354067, essv16354325, essv16353920, essv16354143, essv16353999, essv16354250, essv16354448, essv16353848, essv16354144, essv16353854, essv16353942, essv16354449, essv16354208, essv16353916, essv16354491, essv16354163, essv16354301, essv16353874, essv16354099, essv16354464, essv16354004, essv16353976, essv16354323, essv16354179, essv16354336, essv16353936, essv16354434, essv16354344, essv16354480, essv16354106, essv16354173, essv16353918, essv16354291, essv16353856, essv16353971, essv16353904, essv16354484, essv16354183, essv16354064, essv16354407, essv16354367, essv16354350, essv16354015, essv16353929, essv16354313, essv16354388, essv16354138, essv16354076, essv16353996, essv16354080, essv16353853, essv16354402, essv16354403, essv16354170, essv16354266, essv16353931, essv16354416, essv16353972, essv16354233, essv16354134, essv16354413, essv16354377, essv16354078, essv16354005, essv16353859, essv16353940, essv16354492, essv16354062, essv16354396, essv16354085, essv16353969, essv16353949, essv16354009, essv16353908, essv16353959, essv16353950, essv16354285, essv16354370, essv16354032, essv16354027, essv16354030, essv16353930, essv16353851, essv16353917, essv16354302, essv16354465, essv16353909, essv16354224, essv16354186, essv16353867, essv16354346, essv16354409, essv16354376, essv16354164, essv16354118, essv16353928, essv16353846, essv16354473, essv16354048, essv16354056
SamplesNA20588, HG01485, HG03593, NA20529, HG01918, NA21111, NA20891, HG03228, HG00142, HG00384, NA12414, HG04060, NA21099, HG01602, NA12843, NA11920, HG03717, HG02661, HG02231, HG00151, HG00233, HG01486, HG03018, NA21137, NA20864, HG02215, HG01704, NA18633, HG03679, NA12750, NA20806, HG00337, HG03603, HG00138, HG01506, HG01350, HG01325, HG02690, NA20589, HG01676, HG04206, HG01766, NA20795, HG03673, HG03913, HG03736, HG01492, NA18960, NA18618, NA07048, NA20768, NA12762, HG01083, HG01063, HG03978, HG00243, HG00158, HG04033, HG00281, HG00139, HG00130, NA20759, HG04183, HG03910, HG00335, NA20775, HG01519, NA20812, HG02597, NA19024, HG03947, HG04047, HG00326, HG03649, HG03585, HG00323, HG01550, HG00137, NA20904, NA20892, NA12760, HG00731, NA20800, HG01501, HG02793, HG01200, HG01122, HG04146, NA12878, NA20521, HG01095, HG02449, NA20810, HG03928, HG03711, HG00344, HG03775, NA12718, NA20875, NA20832, HG04177, HG01630, HG01047, NA20903, HG01762, NA20901, NA21086, NA12829, NA11840, HG04173, HG01613, NA06989, HG01130, HG02724, HG01334, HG03006, HG03752, HG04176, HG02219, HG01697, HG04093, HG01625, HG04200, HG03720, NA19729, HG00382, HG00336, NA21144, HG03708, HG03949, NA12873, NA20520, HG02232, HG03869, NA21095, NA18943, HG03973, HG03703, HG03729, HG02700, HG01765, HG02373, HG00381, HG01912, HG03716, HG04098, HG01269, NA20826, HG04171, HG01914, HG00274, NA20503, HG02353, HG03815, HG01776, HG01507, NA20762, NA18998, HG03812, NA20874, HG00114, HG01746, HG01413, HG01441, HG01054, NA19794, NA11995, HG03731, NA12814, HG01359, HG03821, HG01052, HG01537, HG01079, HG00100, HG01586, HG01188, NA11933, HG03589, HG01389, HG00306, NA20813, NA18603, NA12045, HG04094, HG01305, NA19819, NA12004, NA21115, NA12058, NA20507, NA19669, NA12400, HG02285, HG01809, HG03950, HG03706, HG03640, NA20861, HG03757, NA20900, NA20769, HG00736, NA19649, HG03246, HG02655, NA12287, HG03629, HG01848, HG03762, HG03830, HG03793, NA12761, HG01134, NA12282, HG00277, HG02493, HG02490, HG02224, NA20340, HG03746, HG01767, HG03624, HG03777, NA12889, HG00182, HG03744, NA20884, HG00637, HG03750, NA12828, HG00178, HG01605, NA21122, HG00188, HG00149, HG03780, HG01360, NA19082, NA20858, NA20524, NA12342, HG03644, HG02697, HG01790, HG01344, NA21118, HG04180, HG01392, HG01161, HG01619, NA19118, HG00844, HG00373, HG02494, HG04155, HG01383, HG03740, HG01921, HG03854, NA06985, NA20828, NA19756, HG00141, NA21142, NA20542, HG01700, HG00128, NA21143, NA20801, HG00119, NA12775, HG00742, HG02064, HG01253, HG00136, NA20351, NA07051, HG01623, NA19310, HG01260, HG00319, NA20803, NA21094, HG04003, HG03681, HG03019, NA21125, HG01801, HG01606, HG02238, NA12749, NA12830, HG03998, HG01377, NA07056, HG03922, HG01464, HG01863, HG03890, HG01097, HG01583, HG01976, HG01747, NA12383, NA20882, NA20761, HG02658, NA12717, HG01412, HG01173, HG04096, HG00143, HG01462, HG02385, NA20766, NA12286, HG01624, NA20508, HG01610, HG00358, NA20783, HG00315, HG01806, HG03926, NA12340, HG00737, NA20517, HG01051, HG00097, NA20771, NA12399, HG01522, HG03009, HG01513, HG02792, NA20814, NA21135, HG03016, HG03943, HG03754, NA19764, HG01351, HG03808, NA20774, HG01168, HG04042, HG04182, HG01761, HG02733, HG00334, HG01372, NA19923, HG03887, HG01069, HG01080, NA20518, NA20278, HG00148, NA21109, NA12156, HG00325, HG00232, HG00113, NA11994, HG03691, HG01525, NA19722, NA20889, HG00160, HG00118, HG01709, HG01626, HG02477, NA21105, NA20318, NA20753, HG01256, HG00154, HG02820, HG01171, HG00245, NA21119, HG01789, NA20885, HG00732, HG00368, HG01979, NA20314, HG02775, NA18579, HG01345, HG03805, HG01675, HG00551, HG04235, HG00740, HG00324, NA20867, NA11919, HG00651, NA20866, HG01536, HG00350, NA20581, HG03713, HG02787, HG03631, NA20856, HG03643, HG03953, HG03971, HG02783, NA18555, HG03914, HG01474, HG00146, HG04159, HG03898, HG00246, NA12546, HG01075, HG03653, NA12043, HG03238, HG01148, HG00258, NA20872, HG00383, HG00254, HG04227, HG04006, HG01980, HG01678, HG01131, HG00353, HG02220, NA20815, HG04186, HG03695, HG02304, HG01357, NA21123, NA20530, NA20792, NA20778, HG00237, NA20902, NA19679, HG01113, HG03727, HG01489, HG03779, NA06994, HG04140, HG00259, NA20849, NA21102, HG04014, NA19716, NA20510, HG00310, NA20786, HG00280, NA11843, HG03872, NA19780, HG01468, HG02774, HG01479, HG00105, HG01431, HG02778, HG00171, NA20585, NA12154, HG03955, NA20908, HG00553, NA21120, HG00255, NA19676, HG01516, NA18997, HG03741, HG04212, HG00881, HG03773, NA11830, HG03857, NA21097, HG02652, HG01521, HG01356, NA20543, HG03548, HG00361, NA19914, HG03237, HG00187, HG02433, HG03738, NA20531, NA20532, HG00640, HG00318, NA19795, HG01465, HG03668, HG01686, HG00364, HG01456, HG03667, HG00177, HG01632, HG03944, HG03836, NA07357, HG01140, HG00327, NA20846, HG03235, HG04100, HG00127, HG01070, HG03705, HG01779, NA20850, NA19762, HG03490, HG01488, NA20586, HG03873, NA20317, NA20905, HG03905, HG03885, NA12283, HG00369, NA21103, HG01668, HG02786, NA20910, HG03826, HG03897, HG01398, HG03968, NA06984, HG01628, HG03595, HG03788, HG01308, HG03696, HG01673, HG01932, NA20811, NA20533, HG01312, HG03862, HG00133, HG03902, HG03785, HG02233, HG03007, HG01247, HG00328, NA20505, HG01515, HG02322, NA20895, HG03945, NA20506, HG02102, NA20767, HG03919, HG02221, HG01049, NA21116, HG01311, HG00273, HG01512, NA19774, HG03660, NA11894, NA12249, HG03974, HG00321, HG00157, NA19740, NA12827, HG03745, HG03634, HG02184, HG01286, HG03755, NA20534, HG01204, HG01530, NA20765, NA18546, NA20821, NA21113, HG01444, NA20773, NA20522, HG03833, HG04188, HG03790, HG02799, NA19735, HG02049, HG02651, HG03850, HG03488, HG01494, HG03846, NA20797, NA07037, HG04090, HG04141, HG00111, HG00371, HG01770, HG01491, HG03789, HG02230, HG01556, HG02654, HG01055, HG03022, HG00123, HG01089, HG00186, HG02239, HG01781, HG01105, NA20886, NA19661, HG02028, HG01775, HG03856, NA20763, HG01672, HG01112, HG00554, HG00362, NA12776, HG03886, HG01608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647214
Frequency
Sample Size2504
Observed Gain0
Observed Loss649
Observed Complex0
Frequencyn/a


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