A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628458



Internal ID6668601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8208160..8237249hg38UCSC Ensembl
chr12:8360756..8389845hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3829090
hg1929090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv247e214
Supporting Variantsessv14351250, essv14351330, essv14351046, essv14351344, essv14351331, essv14351262, essv14351134, essv14351204, essv14351352, essv14351181, essv14351257, essv14351251, essv14351367, essv14351291, essv14351256, essv14351157, essv14351285, essv14351292, essv14351130, essv14351095, essv14351315, essv14351226, essv14351229, essv14351068, essv14350989, essv14351286, essv14350993, essv14351205, essv14351078, essv14351395, essv14351283, essv14351212, essv14351290, essv14351050, essv14351382, essv14351247, essv14351405, essv14351340, essv14350999, essv14351002, essv14351080, essv14351309, essv14351104, essv14351231, essv14351207, essv14351243, essv14351267, essv14351206, essv14351295, essv14351391, essv14351164, essv14351261, essv14351141, essv14351101, essv14351211, essv14351121, essv14351059, essv14351112, essv14351385, essv14351335, essv14351237, essv14351397, essv14351372, essv14351009, essv14351045, essv14351373, essv14351245, essv14351199, essv14351354, essv14351368, essv14351197, essv14351185, essv14351030, essv14351177, essv14351081, essv14351334, essv14351006, essv14351318, essv14351128, essv14351380, essv14351303, essv14351403, essv14351266, essv14351398, essv14351246, essv14351220, essv14351142, essv14351129, essv14351089, essv14351337, essv14351248, essv14351122, essv14351085, essv14351084, essv14351225, essv14351399, essv14351025, essv14351242, essv14351402, essv14351289, essv14351060, essv14350991, essv14351000, essv14351008, essv14351317, essv14351224, essv14351102, essv14351005, essv14351332, essv14350986, essv14351386, essv14351058, essv14351404, essv14351282, essv14351051, essv14351023, essv14351007, essv14351182, essv14351230, essv14351156, essv14351012, essv14351099, essv14351014, essv14351356, essv14351137, essv14351119, essv14351349, essv14351298, essv14351375, essv14351215, essv14351010, essv14351324, essv14351232, essv14351117, essv14351075, essv14351394, essv14351302, essv14351111, essv14351327, essv14351096, essv14351366, essv14351073, essv14351178, essv14351133, essv14351038, essv14351305, essv14351105, essv14351163, essv14351131, essv14351109, essv14351297, essv14351203, essv14351091, essv14351275, essv14351312, essv14351217, essv14351202, essv14351374, essv14351180, essv14351369, essv14351304, essv14351284, essv14351021, essv14351396, essv14351319, essv14351065, essv14351265, essv14351384, essv14351146, essv14351311, essv14350982, essv14351258, essv14351139, essv14351360, essv14351028, essv14351022, essv14351264, essv14351173, essv14351061, essv14351037, essv14351376, essv14351294, essv14351233, essv14351325, essv14351035, essv14351020, essv14351189, essv14351175, essv14350984, essv14351244, essv14351216, essv14351277, essv14351194, essv14351227, essv14351114, essv14351031, essv14351353, essv14351407, essv14351172, essv14351076, essv14351254, essv14351213, essv14351167, essv14351107, essv14351024, essv14350988, essv14350987, essv14351001, essv14351234, essv14351094, essv14351310, essv14351193, essv14351169, essv14351098, essv14351387, essv14351393, essv14351093, essv14351083, essv14351390, essv14351118, essv14351149, essv14351144, essv14351047, essv14351032, essv14351184, essv14351048, essv14350994, essv14351326, essv14350996, essv14350983, essv14351345, essv14351236, essv14351132, essv14351306, essv14351066, essv14351147, essv14351320, essv14351168, essv14351161, essv14351377, essv14351019, essv14351351, essv14351166, essv14351088, essv14351362, essv14351359, essv14351338, essv14351313, essv14351300, essv14351214, essv14351209, essv14351052, essv14351082, essv14351003, essv14351063, essv14350995, essv14351307, essv14351408, essv14351358, essv14351171, essv14351252, essv14351124, essv14351070, essv14351108, essv14351034, essv14351029, essv14351159, essv14351274, essv14351155, essv14351064, essv14351049, essv14350985, essv14351222, essv14351235, essv14351239, essv14351342, essv14351370, essv14351174, essv14351268, essv14351347, essv14351249, essv14350981, essv14351053, essv14351272, essv14351188, essv14351072, essv14351190, essv14351406, essv14351321, essv14351090, essv14351079, essv14351044, essv14351400, essv14351270, essv14351057, essv14351276, essv14351110, essv14351195, essv14351293, essv14351280, essv14351041, essv14350992, essv14350990, essv14351355, essv14351364, essv14351388, essv14351329, essv14351077, essv14351015, essv14351103, essv14351198, essv14351196, essv14351040, essv14351341, essv14351148, essv14351150, essv14351055, essv14351365, essv14351308, essv14351106, essv14351154, essv14351004, essv14351097, essv14351269, essv14351273, essv14351183, essv14351043, essv14351036, essv14351165, essv14351228, essv14351160, essv14351056, essv14351115, essv14351287, essv14351140, essv14351299, essv14351260, essv14351186, essv14351126, essv14351253, essv14351113, essv14351346, essv14351127, essv14351221, essv14351238, essv14351191, essv14351138, essv14351363, essv14351357, essv14351062, essv14351371, essv14351153, essv14351033, essv14351042, essv14351296, essv14351288, essv14351201, essv14351018, essv14351219, essv14351381, essv14351179, essv14351026, essv14351241, essv14351176, essv14351322, essv14351278, essv14351136, essv14351336, essv14351092, essv14351151, essv14351279, essv14351152, essv14351314, essv14351013, essv14351125, essv14351281, essv14351361, essv14351350, essv14351170, essv14351200, essv14351192, essv14351086, essv14351301, essv14351187, essv14350997, essv14351343, essv14351210, essv14351054, essv14351223, essv14351100, essv14351027, essv14351135, essv14351123, essv14351328, essv14351162, essv14351401, essv14351218, essv14351339, essv14351323, essv14351271, essv14351143, essv14351208, essv14350998, essv14351392, essv14351263, essv14351016, essv14351017, essv14351378, essv14351333, essv14351069, essv14351379, essv14351067, essv14351240, essv14351259, essv14351116, essv14351145, essv14351348, essv14351316, essv14351158, essv14351011, essv14351039, essv14351389, essv14351087, essv14351074, essv14351383, essv14351071, essv14351255, essv14351120
SamplesHG02386, NA18745, HG01412, HG01173, HG01965, HG00608, HG02002, NA20766, NA12286, HG01624, NA19664, HG01610, NA21127, NA10851, HG01031, HG02026, HG04158, NA20878, NA11920, HG01326, HG02029, HG02661, HG02727, NA18999, NA20512, HG02691, NA20294, HG02017, HG02215, HG00115, NA18616, NA20517, HG02384, HG02154, HG00654, HG02356, HG01051, NA20356, NA18633, NA20771, NA12750, NA12399, HG01522, HG01513, HG02792, HG00138, HG01350, HG00589, NA21130, NA18567, HG00238, NA18993, HG03736, HG02266, HG04182, HG01761, NA20768, HG01083, HG02733, HG00451, HG00185, HG02603, NA18949, HG00158, HG02131, HG04033, NA20539, HG02143, HG03817, HG00148, NA20812, HG00325, NA11932, HG02389, HG00113, NA18966, HG01950, HG00160, HG00118, HG01198, HG01121, HG00326, HG03585, HG02409, HG01967, HG01550, HG00253, NA20515, NA18539, NA20753, HG00743, HG01565, NA18951, NA12760, NA20800, HG01171, HG02793, HG01200, HG02070, NA19006, HG00245, HG01857, HG00360, HG01095, HG04195, HG00101, NA20810, HG02253, NA19717, HG02084, NA20862, HG03491, HG00344, HG01498, NA18579, HG02014, NA20832, HG01323, HG01675, NA18981, NA12234, HG01047, NA19654, HG00324, HG00284, NA20867, NA11919, HG03951, HG02577, HG00350, HG02787, HG01613, HG03643, HG01130, HG01101, HG04063, NA18555, HG01474, HG00704, HG01680, HG03752, HG01936, HG00240, NA12546, HG01107, NA18541, HG01075, HG01896, HG01257, NA19003, HG01858, HG00258, HG02089, HG00155, HG00383, HG04227, HG04006, HG01980, HG01131, HG00353, HG03949, HG02355, NA12272, HG01685, HG02304, HG01939, HG01396, NA20520, NA19010, HG03702, NA19835, HG01866, NA20778, HG00237, NA19679, HG02274, HG03727, NA18610, HG03779, HG02558, HG02371, HG04080, HG01086, NA19785, HG03642, HG02147, HG01935, HG03733, HG00342, NA19716, HG00267, HG01302, NA21093, NA18609, NA20786, HG01269, NA19080, NA18983, HG02774, HG01479, HG00105, HG02353, HG01756, HG02778, HG00628, NA18624, NA12006, NA18623, NA18740, HG01805, NA20908, HG01786, NA19074, NA21120, NA11832, HG00255, NA18620, HG03989, HG01516, HG01507, HG04198, HG03812, HG00881, HG03857, HG02652, HG01521, HG00121, HG03965, NA11995, HG01348, HG00351, HG02702, HG04194, NA19734, NA21092, HG01970, NA20813, HG02360, HG00640, HG01305, NA19777, HG00566, NA12058, HG01971, HG00341, NA12155, HG03950, HG03680, HG01140, NA12413, HG01924, NA18967, NA19068, HG01571, NA19746, HG01341, HG00127, NA19076, HG01503, NA12812, HG01070, HG00251, HG01953, HG01779, NA20850, NA19728, HG03490, HG01997, NA19723, HG03937, HG01945, NA11992, HG03885, HG02374, HG00851, NA18642, HG01354, NA12287, HG03911, HG01510, HG02786, HG03793, NA12761, HG03826, HG01398, HG01067, HG00683, HG02490, HG01170, HG00262, NA18560, HG01281, HG04106, HG01767, HG01308, HG01673, HG03995, HG00309, HG01932, HG00338, NA12828, NA18975, HG03832, HG01605, NA18954, NA18638, HG01312, HG01699, HG00260, NA21106, NA10847, HG00149, HG03844, HG00629, HG02136, HG01360, NA20524, HG01384, NA12342, HG01104, HG02697, HG02236, HG00653, HG00475, HG01088, NA18939, HG00533, HG02390, HG00598, NA19788, NA20506, NA20126, HG02497, HG01852, NA18630, NA19776, HG01948, NA21116, HG03021, HG03742, HG01777, HG01615, HG03871, HG01619, HG03858, HG01197, HG01707, NA20538, HG02649, NA18946, HG01182, HG03974, HG00525, HG03634, HG02292, HG02725, HG01708, NA06985, HG01865, HG00410, NA20542, HG00445, NA20534, HG01204, HG01700, HG01530, HG00128, NA20773, NA20522, NA18542, HG03833, HG04188, HG00119, NA11881, HG00285, HG01954, NA19749, HG02696, HG02064, HG03899, HG01915, HG03689, NA20351, NA20785, NA12046, HG01623, HG01951, HG01494, HG01205, NA18643, NA18591, NA20516, NA07037, HG00256, HG04003, NA20887, HG02181, NA19078, HG01606, HG00672, HG01432, HG01491, HG03789, HG01917, HG03896, HG02230, HG00378, HG03863, HG02654, HG02239, NA20807, HG00234, HG00131, NA19726, HG01781, HG01105, HG00252, NA19661, HG03922, NA19755, HG00759, NA07000, HG01097, HG02006, HG01191, NA18622, HG03886, HG01976
Known GenesFAM86FP, FAM90A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628458
Frequency
Sample Size2504
Observed Gain428
Observed Loss0
Observed Complex0
Frequencyn/a


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