A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576e214



Internal ID20121999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46153527..46185331hg38UCSC Ensembl
chr17:44230893..44262697hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831805
hg1931805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640681, esv3640680
SamplesNA20588, NA20529, NA21111, HG01965, HG03228, HG00142, HG01443, HG00384, HG04222, HG04060, NA21099, HG03687, HG01602, NA21100, NA12843, NA11920, HG01326, NA11931, HG03717, HG02661, HG02231, HG00257, HG00151, HG00233, NA20512, HG04076, NA12751, HG03941, HG02600, HG03616, NA21137, NA20864, NA19684, HG02215, NA20863, HG02688, NA21128, HG01704, HG03679, NA20806, NA20894, NA12813, HG04059, HG00138, HG03645, HG01506, HG03770, HG00122, HG03722, HG01177, NA19678, HG01676, HG01167, NA21130, HG04206, HG01766, NA20756, NA20911, NA20795, HG03673, HG00129, HG03913, HG03736, HG01492, NA07048, HG03874, NA11918, HG03234, NA20768, NA12762, HG00355, HG04070, HG03978, HG00311, HG03917, HG00158, HG04033, HG00130, NA20759, HG04183, HG03817, NA19720, HG03910, HG00335, HG01519, NA20812, HG02597, HG01284, HG03947, HG01950, HG04047, HG00326, HG03649, HG03585, HG01967, HG01550, NA20515, NA19789, NA20755, HG02479, HG01565, HG01164, HG00137, NA12777, NA20904, HG03697, NA20892, NA20535, HG00731, NA20800, HG03685, HG02793, HG01200, HG04146, HG03718, HG03907, HG04039, NA12878, HG03786, NA20521, HG01684, HG01095, NA20810, NA20760, HG03928, HG02253, NA19717, NA19663, HG02731, HG03711, HG00344, HG03900, HG03771, HG03775, NA12718, HG02728, NA20519, HG03781, NA12234, HG01630, HG03823, HG01047, HG01102, NA20903, NA20901, NA21086, HG03951, HG02445, NA11893, HG00331, NA21112, HG04173, HG01613, NA19750, NA06989, HG04017, HG01130, HG04063, HG01334, HG02256, HG03006, HG03752, NA12778, HG04176, HG02219, HG01697, HG04118, HG00126, HG04093, HG01625, HG01107, HG03694, HG01257, HG03743, HG03720, NA20799, HG04025, HG03598, HG03848, HG04216, HG04026, HG03875, HG02308, HG03949, HG03920, NA12873, NA20520, HG03702, HG02232, HG03869, HG00116, NA20281, NA12763, NA12347, HG03973, HG03703, NA20888, HG03729, NA20906, HG02700, HG01577, NA19785, HG03849, HG00267, HG03716, HG04098, HG01631, HG01269, HG02013, NA20826, HG04171, NA20503, HG01756, NA20827, HG03867, HG03985, HG01776, HG01437, NA11832, HG03989, HG03864, HG01507, HG03690, HG00096, HG03812, NA20874, HG01060, HG00114, HG01746, HG00235, HG01441, NA19648, HG00121, HG03652, HG01303, NA11995, HG03731, HG03960, HG01359, HG03821, HG01052, HG04229, NA20899, HG01537, HG00100, HG04194, HG01586, HG04202, HG01188, NA11933, NA19734, HG03589, HG01389, NA12045, HG04094, NA19819, HG03772, NA21115, HG04018, HG04164, NA20808, HG00150, HG02734, HG04001, HG03950, HG01500, NA19746, HG01503, NA12812, HG00251, HG00109, HG03706, HG03640, HG03757, NA20890, HG01064, HG00173, HG03937, HG03765, NA20769, HG00736, NA19649, HG02655, NA20540, NA12287, HG03911, HG03629, HG04131, NA20513, HG03762, HG03594, NA20541, HG03830, NA12761, HG03868, HG03851, HG01893, HG01134, NA12282, HG00277, NA12005, HG02493, NA19651, HG00120, HG03986, HG02490, HG00106, HG02224, NA20896, HG01757, HG01527, HG03746, HG03777, HG01176, NA12889, NA12815, HG03995, HG03744, HG03750, NA12828, NA20587, HG01605, HG03884, NA12748, HG01699, HG01603, HG01524, NA20818, HG03709, HG01784, HG00188, HG03780, NA19657, HG01360, NA20858, NA19707, NA20787, HG04225, NA20524, HG03787, HG01384, NA12342, HG04062, HG03644, HG02697, HG02236, NA12872, HG03760, HG01790, NA20809, HG01612, NA19982, HG02307, NA19788, HG04035, NA21098, HG03756, NA20770, HG02789, HG01777, HG01392, HG01619, HG01414, HG03824, HG03858, HG02494, HG01197, HG00110, HG02604, HG01504, HG01383, NA20881, HG03625, HG03854, HG02725, HG01708, NA06985, NA20828, HG00141, HG02586, NA21142, HG03940, HG01700, NA21143, NA20296, HG01363, HG03866, HG04134, NA11881, NA19834, HG01954, NA19749, HG04239, HG03838, HG01362, HG01253, HG00136, HG03689, HG03012, NA19786, HG00319, NA20803, HG00256, NA21094, HG03681, HG00125, NA21125, NA19818, HG01606, HG01432, HG04015, NA20868, HG03646, HG00329, NA12749, HG01783, NA19713, HG00174, NA21101, HG04209, HG03998, NA20807, NA19726, HG00372, HG00252, HG01617, HG01377, HG03922, HG00345, HG04161, HG03890, HG01583, NA20509, HG01747, NA20511, NA12383, HG04210, NA20882, NA19701, NA20761, HG02658, NA12717, HG01412, HG04096, HG00143, HG00102, NA12286, HG01624, HG01610, HG00242, NA21127, NA12273, NA20514, HG03753, HG02784, NA20878, HG02727, HG00315, NA20802, HG00181, NA12340, HG03229, HG00737, NA20517, HG01051, HG00261, HG00097, NA20771, HG03999, NA12399, HG04156, HG01522, HG03009, HG01513, HG00271, HG03782, HG02792, NA20814, NA21135, HG03016, HG03943, NA19764, HG03808, HG02146, NA20774, HG01168, HG04042, HG00238, HG03604, HG01761, NA20822, NA07347, NA21108, HG02603, NA20539, NA19923, NA12275, HG00148, NA21109, NA12156, HG02736, NA11932, HG00232, HG00113, NA12044, NA11994, HG03888, HG03691, HG01525, HG00160, HG00118, HG01133, HG01058, HG01709, HG01121, HG01626, HG02780, HG01275, NA21105, HG00365, HG04075, HG03784, NA20318, NA20753, HG03861, HG01171, HG00380, HG03714, HG01670, HG01669, HG00360, NA21119, HG03990, HG01789, NA20885, HG04195, HG01882, HG01979, HG00132, HG02775, NA20862, HG01768, HG01142, HG00263, HG00275, HG01077, HG03805, HG01323, HG01149, HG01675, HG00239, HG04235, HG00740, HG03967, NA20525, NA20867, NA11919, HG03730, NA20866, HG00350, NA20581, HG03713, HG02787, HG02657, HG03631, NA20856, HG03643, HG01593, HG00140, NA19752, HG03953, HG03971, HG02783, HG03969, HG03914, HG01474, HG03672, NA12144, HG04159, HG03898, HG00246, HG00240, HG03653, NA12043, HG03238, HG02660, HG00258, NA20872, HG00155, HG00254, HG04227, HG00265, HG04006, HG01980, HG01131, HG02220, HG04186, NA12272, HG03695, HG01551, HG00734, HG01396, HG01357, NA21123, NA20790, NA20530, NA20527, NA20362, NA20778, HG00237, HG04099, HG03870, HG01113, HG03727, HG03779, HG04080, NA06994, HG02694, HG04140, HG03642, NA20847, NA21090, HG03977, NA20849, NA21102, HG04014, HG03733, HG02235, HG00342, NA19716, NA20852, NA21133, NA20510, NA21093, HG00310, NA20786, HG00280, NA20758, HG03925, HG03872, NA19780, NA19711, HG01468, HG02681, HG02774, HG01479, HG00105, HG01431, NA11892, HG00171, NA12890, NA12006, NA20585, HG04153, HG04061, HG03955, NA20908, HG01786, NA21091, HG01516, HG04198, HG03741, HG04212, HG03773, NA21110, HG03800, HG03857, NA21097, HG01521, HG01098, HG01356, NA20543, HG01438, HG00361, HG03237, HG00187, HG02433, HG03767, HG03738, HG04211, HG01280, NA21092, HG03607, NA20532, HG04002, HG00640, HG00367, HG01465, HG01531, HG00364, NA19777, HG03963, HG01456, HG03895, HG02271, HG00179, HG03792, HG01632, HG03944, HG03836, NA12155, HG03680, HG01694, HG01140, NA20846, HG03235, NA19792, HG04100, HG00127, HG01682, HG04022, HG01779, HG03490, NA20586, HG03976, HG03873, NA20317, NA20905, NA12348, NA11992, HG03885, HG00346, NA12283, NA19771, HG00369, HG01510, NA19782, HG01393, HG02786, HG01242, HG03803, HG04214, HG03826, HG01455, HG01067, HG03968, NA06984, HG01628, HG03595, HG01495, HG01072, HG03788, HG01281, HG03696, HG01673, HG01405, NA21107, HG03693, HG04238, HG01440, HG00309, HG01932, NA20811, HG04185, HG00159, NA21114, NA20533, HG04029, HG00739, HG01312, HG03862, HG00260, NA21106, NA10847, HG01353, HG00133, HG02737, HG01139, NA20854, HG03902, HG03844, HG03785, HG03908, HG01248, HG02233, HG01247, HG00328, HG01104, NA20505, HG00190, HG01271, HG04107, HG03636, NA20895, HG03945, NA20506, HG04019, HG01119, NA20767, HG02221, HG01092, HG01447, HG01390, HG03742, HG01615, HG01311, HG03871, HG01512, HG04054, HG03660, NA21141, NA11894, NA20538, HG02649, HG03974, HG01791, HG00321, HG00157, HG03745, HG03634, HG04152, HG03755, HG03774, NA20534, HG01204, NA20765, NA20821, NA21087, NA21113, HG01444, NA20773, NA20522, HG03833, HG03778, HG04188, HG02682, HG00357, HG03899, HG00278, HG02651, HG03850, HG00308, HG03488, HG01933, HG03846, HG02685, NA19741, NA20797, NA12874, NA07037, HG04090, NA21126, NA19085, NA06986, HG04141, HG01395, HG04023, HG00371, HG01770, HG01491, HG03789, NA21088, HG03863, HG02654, NA20334, HG03022, HG00123, HG03684, HG03615, HG00186, HG02239, HG00234, HG03894, HG01781, NA20528, HG01251, NA20886, HG03882, HG01775, HG01378, HG03856, HG01082, HG04056, NA20763, HG01672, NA21104, HG03931, HG01112, HG00554, HG00180, HG03686, HG01695, NA12776, HG01608
Known GenesKANSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv576e214
Frequency
Sample Size2504
Observed Gain884
Observed Loss0
Observed Complex0
Frequencyn/a


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