A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640585



Internal ID7027360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41375451..41383489hg38UCSC Ensembl
chr17:39531703..39539741hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388039
hg198039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15678870, essv15678832, essv15678746, essv15678725, essv15678873, essv15678812, essv15678815, essv15678864, essv15678768, essv15678716, essv15678724, essv15678913, essv15678766, essv15678817, essv15678859, essv15678798, essv15678680, essv15678757, essv15678807, essv15678734, essv15678761, essv15678869, essv15678839, essv15678833, essv15678905, essv15678883, essv15678838, essv15678855, essv15678918, essv15678867, essv15678849, essv15678793, essv15678824, essv15678827, essv15678818, essv15678925, essv15678760, essv15678741, essv15678888, essv15678749, essv15678703, essv15678879, essv15678735, essv15678880, essv15678691, essv15678906, essv15678865, essv15678789, essv15678697, essv15678897, essv15678796, essv15678756, essv15678919, essv15678872, essv15678699, essv15678738, essv15678786, essv15678785, essv15678803, essv15678775, essv15678860, essv15678758, essv15678911, essv15678835, essv15678711, essv15678787, essv15678868, essv15678898, essv15678853, essv15678733, essv15678856, essv15678739, essv15678887, essv15678920, essv15678784, essv15678848, essv15678710, essv15678805, essv15678875, essv15678759, essv15678762, essv15678885, essv15678854, essv15678794, essv15678698, essv15678808, essv15678772, essv15678909, essv15678884, essv15678705, essv15678730, essv15678904, essv15678891, essv15678702, essv15678690, essv15678731, essv15678783, essv15678842, essv15678896, essv15678779, essv15678878, essv15678684, essv15678719, essv15678717, essv15678926, essv15678861, essv15678810, essv15678899, essv15678742, essv15678704, essv15678707, essv15678782, essv15678767, essv15678778, essv15678732, essv15678723, essv15678850, essv15678765, essv15678686, essv15678750, essv15678811, essv15678776, essv15678718, essv15678728, essv15678889, essv15678895, essv15678804, essv15678871, essv15678752, essv15678908, essv15678841, essv15678821, essv15678740, essv15678921, essv15678751, essv15678857, essv15678687, essv15678720, essv15678788, essv15678893, essv15678706, essv15678847, essv15678764, essv15678799, essv15678708, essv15678682, essv15678770, essv15678747, essv15678689, essv15678755, essv15678795, essv15678801, essv15678683, essv15678819, essv15678745, essv15678886, essv15678806, essv15678792, essv15678727, essv15678820, essv15678780, essv15678791, essv15678844, essv15678743, essv15678852, essv15678813, essv15678701, essv15678874, essv15678914, essv15678916, essv15678822, essv15678763, essv15678866, essv15678692, essv15678790, essv15678890, essv15678685, essv15678862, essv15678923, essv15678693, essv15678845, essv15678714, essv15678715, essv15678773, essv15678713, essv15678800, essv15678843, essv15678828, essv15678681, essv15678797, essv15678771, essv15678834, essv15678892, essv15678901, essv15678722, essv15678753, essv15678876, essv15678695, essv15678777, essv15678700, essv15678748, essv15678744, essv15678851, essv15678709, essv15678915, essv15678721, essv15678696, essv15678830, essv15678823, essv15678826, essv15678736, essv15678729, essv15678737, essv15678894, essv15678882, essv15678907, essv15678694, essv15678825, essv15678816, essv15678924, essv15678900, essv15678814, essv15678769, essv15678903, essv15678858, essv15678837, essv15678809, essv15678726, essv15678831, essv15678917, essv15678846, essv15678688, essv15678863, essv15678912, essv15678836, essv15678781, essv15678829, essv15678802, essv15678910, essv15678881, essv15678712, essv15678840, essv15678922, essv15678902, essv15678877, essv15678774, essv15678754
SamplesHG02386, NA18502, NA19028, HG00650, HG04096, HG00242, NA19204, NA18508, NA20783, HG00766, HG02836, HG03115, NA18639, NA20294, NA19355, HG01802, HG03229, NA20332, NA19377, NA18959, HG01518, HG02888, HG01051, HG02769, HG03572, HG01506, HG03452, NA20798, NA20589, HG01177, NA19307, HG02595, NA18916, HG02645, HG03040, NA19904, HG03917, NA19720, HG03910, HG02561, NA20812, HG02634, HG02597, NA11994, HG02588, HG03380, NA19239, HG01058, NA20355, HG02623, NA20127, HG02477, NA20318, HG02479, HG02442, NA18951, NA18605, NA19908, HG02070, NA18933, HG00732, NA19184, HG01882, NA19455, NA19043, HG03457, HG02144, HG02887, HG00583, HG03575, HG03159, HG00551, HG03829, HG03472, HG02429, NA11893, HG00684, HG01593, HG03024, HG02979, NA19452, NA19682, NA12144, HG04159, HG02332, HG02219, HG02594, HG01075, HG02722, HG01257, NA19375, HG02557, HG01980, HG03458, HG02611, NA20792, HG01113, HG01798, NA20281, HG03727, HG03103, HG03112, HG03157, NA19351, HG03313, HG02235, HG01302, NA20852, NA19093, HG03063, NA18609, HG03351, HG01631, HG03077, HG03401, HG00728, NA19900, HG02778, NA18740, NA19346, HG03166, NA19676, NA20874, HG01060, HG03366, NA19222, HG03857, NA19700, HG02250, HG03548, HG03821, HG02702, HG04211, HG03057, HG01389, NA18917, HG03558, HG03130, NA19393, HG03139, HG00879, HG03172, NA19098, HG01809, HG03199, HG03095, HG03099, HG03135, NA18489, HG01779, NA19448, NA20317, HG03370, NA19131, NA11992, NA12283, HG03911, HG03479, HG01848, HG02786, HG02111, HG02505, HG02493, HG02067, NA20896, HG03595, HG04106, HG02471, HG03352, NA19725, HG03267, NA19209, NA18908, HG03114, HG03369, NA19200, HG03120, HG03785, HG04225, HG04062, NA19152, HG00653, HG03547, NA19913, HG03428, HG01989, HG02307, NA20126, HG03123, HG03563, HG03085, NA19114, HG01512, HG01414, NA18499, NA19113, HG03571, NA19257, HG02585, NA19095, HG02586, NA20542, HG02408, NA18646, NA19436, NA19035, HG03567, HG01363, HG02455, NA20522, HG03778, HG02282, HG02807, HG03240, NA19108, HG02759, HG02696, HG02837, HG02314, NA19334, NA18629, NA19310, NA20516, HG03419, HG02814, HG04003, HG02974, HG02238, NA20582, HG02646, HG03049, NA19713, HG02396, HG01085, HG02462, HG03410, HG03445, HG01617, NA18488, NA20763, HG00759, HG02284, NA18522, HG02808, HG03118, HG02343, HG01061
Known GenesKRT34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640585
Frequency
Sample Size2504
Observed Gain247
Observed Loss0
Observed Complex0
Frequencyn/a


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