A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647626



Internal ID6687680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33384447..33387348hg38UCSC Ensembl
Innerchr22:33384448..33387348hg38UCSC Ensembl
Outerchr22:33384447..33387349hg38UCSC Ensembl
chr22:33780433..33783334hg19UCSC Ensembl
Innerchr22:33780434..33783334hg19UCSC Ensembl
Outerchr22:33780433..33783335hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408211, essv16408229, essv16408376, essv16408180, essv16408242, essv16408359, essv16408131, essv16408169, essv16408304, essv16408315, essv16408137, essv16408474, essv16408139, essv16408149, essv16408384, essv16408302, essv16408191, essv16408227, essv16408483, essv16408173, essv16408426, essv16408412, essv16408176, essv16408129, essv16408433, essv16408287, essv16408385, essv16408203, essv16408080, essv16408090, essv16408382, essv16408478, essv16408087, essv16408262, essv16408340, essv16408272, essv16408346, essv16408309, essv16408241, essv16408279, essv16408121, essv16408264, essv16408225, essv16408178, essv16408119, essv16408265, essv16408196, essv16408190, essv16408282, essv16408319, essv16408170, essv16408159, essv16408161, essv16408192, essv16408406, essv16408352, essv16408450, essv16408081, essv16408283, essv16408405, essv16408437, essv16408210, essv16408306, essv16408106, essv16408381, essv16408113, essv16408183, essv16408396, essv16408278, essv16408364, essv16408394, essv16408215, essv16408230, essv16408471, essv16408289, essv16408099, essv16408325, essv16408420, essv16408375, essv16408351, essv16408082, essv16408431, essv16408276, essv16408112, essv16408126, essv16408097, essv16408233, essv16408456, essv16408342, essv16408322, essv16408212, essv16408213, essv16408485, essv16408174, essv16408160, essv16408247, essv16408094, essv16408163, essv16408464, essv16408201, essv16408221, essv16408297, essv16408089, essv16408098, essv16408393, essv16408186, essv16408115, essv16408407, essv16408363, essv16408391, essv16408466, essv16408418, essv16408482, essv16408360, essv16408118, essv16408374, essv16408438, essv16408469, essv16408071, essv16408181, essv16408432, essv16408120, essv16408452, essv16408330, essv16408245, essv16408142, essv16408377, essv16408266, essv16408187, essv16408451, essv16408473, essv16408308, essv16408430, essv16408243, essv16408475, essv16408435, essv16408436, essv16408321, essv16408402, essv16408157, essv16408379, essv16408207, essv16408138, essv16408421, essv16408350, essv16408389, essv16408400, essv16408232, essv16408312, essv16408162, essv16408387, essv16408333, essv16408237, essv16408392, essv16408224, essv16408088, essv16408109, essv16408236, essv16408259, essv16408427, essv16408410, essv16408388, essv16408066, essv16408415, essv16408462, essv16408185, essv16408480, essv16408307, essv16408172, essv16408148, essv16408446, essv16408468, essv16408092, essv16408114, essv16408194, essv16408409, essv16408103, essv16408075, essv16408366, essv16408078, essv16408413, essv16408368, essv16408270, essv16408291, essv16408404, essv16408234, essv16408184, essv16408188, essv16408074, essv16408179, essv16408428, essv16408403, essv16408453, essv16408479, essv16408378, essv16408441, essv16408292, essv16408411, essv16408124, essv16408117, essv16408434, essv16408373, essv16408239, essv16408365, essv16408416, essv16408166, essv16408253, essv16408357, essv16408285, essv16408150, essv16408091, essv16408334, essv16408461, essv16408101, essv16408372, essv16408258, essv16408250, essv16408390, essv16408317, essv16408316, essv16408096, essv16408299, essv16408153, essv16408152, essv16408281, essv16408199, essv16408205, essv16408214, essv16408290, essv16408274, essv16408417, essv16408339, essv16408164, essv16408228, essv16408104, essv16408395, essv16408345, essv16408175, essv16408344, essv16408248, essv16408197, essv16408425, essv16408445, essv16408444, essv16408361, essv16408251, essv16408298, essv16408100, essv16408323, essv16408310, essv16408252, essv16408467, essv16408314, essv16408132, essv16408320, essv16408331, essv16408158, essv16408267, essv16408324, essv16408337, essv16408448, essv16408206, essv16408440, essv16408370, essv16408208, essv16408218, essv16408072, essv16408338, essv16408313, essv16408260, essv16408116, essv16408130, essv16408353, essv16408122, essv16408380, essv16408226, essv16408355, essv16408083, essv16408305, essv16408261, essv16408476, essv16408102, essv16408257, essv16408349, essv16408424, essv16408457, essv16408442, essv16408146, essv16408439, essv16408455, essv16408326, essv16408069, essv16408133, essv16408067, essv16408151, essv16408398, essv16408256, essv16408362, essv16408144, essv16408128, essv16408249, essv16408107, essv16408336, essv16408141, essv16408145, essv16408182, essv16408311, essv16408065, essv16408216, essv16408198, essv16408484, essv16408238, essv16408423, essv16408303, essv16408399, essv16408244, essv16408447, essv16408284, essv16408356, essv16408472, essv16408135, essv16408193, essv16408231, essv16408217, essv16408154, essv16408286, essv16408269, essv16408460, essv16408168, essv16408271, essv16408369, essv16408079, essv16408209, essv16408111, essv16408171, essv16408204, essv16408329, essv16408470, essv16408332, essv16408419, essv16408327, essv16408293, essv16408295, essv16408277, essv16408275, essv16408459, essv16408195, essv16408343, essv16408077, essv16408140, essv16408296, essv16408085, essv16408328, essv16408477, essv16408076, essv16408280, essv16408449, essv16408454, essv16408136, essv16408301, essv16408341, essv16408108, essv16408095, essv16408093, essv16408125, essv16408165, essv16408408, essv16408073, essv16408414, essv16408155, essv16408422, essv16408300, essv16408401, essv16408127, essv16408220, essv16408318, essv16408068, essv16408371, essv16408268, essv16408358, essv16408222, essv16408481, essv16408110, essv16408429, essv16408086, essv16408240, essv16408397, essv16408123, essv16408219, essv16408177, essv16408105, essv16408354, essv16408465, essv16408223, essv16408367, essv16408147, essv16408156, essv16408443, essv16408235, essv16408386, essv16408335, essv16408348, essv16408134, essv16408200, essv16408254, essv16408263, essv16408294, essv16408458, essv16408255, essv16408070, essv16408347, essv16408288, essv16408084, essv16408202, essv16408463, essv16408143, essv16408189, essv16408246, essv16408273, essv16408167, essv16408383
SamplesHG03922, HG03882, HG01378, HG01082, HG04161, HG01566, NA21104, HG03931, HG01695, HG01583, HG00362, HG03886, NA20511, NA20588, NA12383, NA19701, HG03593, HG02658, HG01412, HG01173, HG00304, NA20529, NA21111, NA20891, HG01462, HG03228, HG00142, NA20508, HG03052, NA21127, NA10851, NA12273, HG00358, HG04060, HG03111, HG02784, HG01602, NA20878, NA21100, NA12843, HG01326, HG00257, HG02727, HG02419, HG01066, NA20802, HG03229, NA21137, NA20864, HG03193, HG01947, HG01518, NA20863, HG02688, NA21128, HG01051, HG00261, HG03679, HG02769, HG04156, HG03009, HG00271, HG03782, HG02792, HG03837, HG00641, HG03603, HG03645, HG02621, HG03016, HG03754, NA20589, HG01676, HG01277, NA21130, HG02146, NA20774, HG03673, HG03913, HG03604, NA18916, HG04182, HG01761, NA11918, NA20768, NA21108, HG03040, HG00311, HG00243, HG03917, NA11930, HG04033, HG03619, HG04183, HG03817, NA21109, NA11932, HG03888, HG03691, HG03947, HG01525, HG03814, NA20412, HG04047, HG00160, HG00118, NA21129, HG02260, HG01121, HG01626, HG02477, NA20515, HG04075, HG00349, HG00154, HG03685, HG01435, HG03714, HG02793, HG04146, NA20885, NA18933, HG01684, NA20760, HG03928, NA19455, HG01979, HG02144, NA20862, NA12718, HG01077, HG03805, NA20832, HG01323, HG01149, HG01675, HG04177, HG03781, HG01630, HG03823, HG03967, NA20866, HG03713, HG02657, HG03631, NA20856, NA06989, HG03643, HG04017, HG02881, HG04063, HG03971, NA12144, HG03752, NA19318, HG04159, HG00099, HG04176, HG03898, HG00246, HG04118, HG01625, HG04200, NA12043, HG03934, HG03064, HG03238, HG02660, HG00258, HG03598, HG03848, HG04216, HG04227, HG00265, HG04006, NA21144, HG03875, NA19747, HG03708, HG02308, HG01678, HG04186, HG03949, HG02790, NA12272, HG03695, HG03692, HG01685, HG03920, NA12873, HG01396, NA21123, NA20362, HG00237, HG03870, HG03304, HG00339, HG03703, HG01086, NA20906, NA20897, HG03600, HG02700, HG03642, HG03157, HG00381, NA21102, HG03733, HG01302, NA21093, HG03716, HG02013, HG01468, HG02681, HG02774, HG00105, NA20503, NA19121, HG01431, HG01756, HG01125, HG00171, HG04153, HG04061, HG02643, HG01509, HG03955, HG01776, NA20908, HG01786, NA19214, HG00255, NA20772, HG01507, HG03741, NA20762, HG03690, HG04212, NA20874, HG00235, NA21110, HG03800, NA19648, HG01098, NA20877, HG01773, HG03237, NA20899, HG01537, HG00100, HG04194, HG02433, HG03767, HG04211, NA21092, NA20813, HG04094, NA20321, HG01465, NA20805, HG04164, HG03895, HG03667, NA20808, HG03792, HG02734, HG03172, HG03944, HG04001, HG03950, HG01503, NA12812, HG00109, HG01682, HG03640, HG03757, HG01779, NA20890, HG03490, HG03937, NA20900, HG03765, HG04144, HG00330, NA12348, NA11992, HG03885, HG02655, HG03911, NA21103, HG04131, NA20910, HG02281, HG03868, HG03851, HG01893, HG04214, HG02493, HG03897, HG01398, HG01067, HG03968, HG02490, HG00106, NA06984, HG00236, NA20896, HG03595, HG01495, HG00262, HG01767, HG01308, HG03696, HG03777, HG01673, NA12815, NA20869, NA19901, HG00637, HG00159, HG03750, NA20533, NA18908, NA19200, NA21122, NA12748, HG03862, HG01603, HG01524, NA21106, HG02737, HG03902, HG03908, HG01248, NA20858, HG00145, NA20524, NA12342, HG02236, HG03760, HG03636, HG02108, HG01612, HG04162, NA20895, NA19982, HG00320, HG04035, HG03945, HG04019, NA18910, HG01880, NA21116, HG03021, HG01615, HG01094, HG01161, HG04054, NA21141, HG02494, HG02604, HG01504, HG04155, HG01182, HG01791, HG03740, NA19740, NA20282, HG03745, HG04152, NA19756, HG00141, HG03774, NA20534, HG03940, HG01204, HG00128, NA19436, HG02255, NA21087, HG02613, HG02455, NA21113, HG03866, HG02684, HG04134, HG03809, HG00285, HG04239, HG02682, HG02651, HG01623, HG03488, HG03012, NA20504, HG02685, HG01108, HG04090, HG04003, NA20887, NA21125, HG00107, NA19376, HG03565, HG01770, HG03789, HG01556, NA12749, HG02699, HG02654, NA19713, HG01254, HG03022, NA21101, HG04209, HG02462, HG03684, HG02239, HG03894, HG01105, HG02051
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647626
Frequency
Sample Size2504
Observed Gain0
Observed Loss421
Observed Complex0
Frequencyn/a


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