A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616975



Internal ID6657171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40612187..40612867hg38UCSC Ensembl
Innerchr8:40612189..40612866hg38UCSC Ensembl
Outerchr8:40612186..40612869hg38UCSC Ensembl
chr8:40469706..40470386hg19UCSC Ensembl
Innerchr8:40469708..40470385hg19UCSC Ensembl
Outerchr8:40469705..40470388hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13177749, essv13178038, essv13177484, essv13177934, essv13178017, essv13177577, essv13177535, essv13177631, essv13177521, essv13177845, essv13177924, essv13178092, essv13177556, essv13178004, essv13177518, essv13177859, essv13178063, essv13178046, essv13177640, essv13177678, essv13177758, essv13178034, essv13177654, essv13177562, essv13177677, essv13177431, essv13177855, essv13178044, essv13177891, essv13177482, essv13177922, essv13177619, essv13177532, essv13177787, essv13177879, essv13178041, essv13177731, essv13177655, essv13177707, essv13177713, essv13177811, essv13177745, essv13177624, essv13177723, essv13177574, essv13177539, essv13177925, essv13177587, essv13178079, essv13177566, essv13177830, essv13177980, essv13177996, essv13177612, essv13178083, essv13178090, essv13177439, essv13177629, essv13177673, essv13177636, essv13177690, essv13177692, essv13177594, essv13177915, essv13178037, essv13177528, essv13177579, essv13178006, essv13177929, essv13177951, essv13177990, essv13177448, essv13177832, essv13177601, essv13177596, essv13177960, essv13177548, essv13178060, essv13177861, essv13177661, essv13177560, essv13177802, essv13177515, essv13177803, essv13177486, essv13177638, essv13177759, essv13177747, essv13177542, essv13177671, essv13177863, essv13177669, essv13177939, essv13177470, essv13177725, essv13177453, essv13177827, essv13177958, essv13177901, essv13177885, essv13177568, essv13177765, essv13177411, essv13177947, essv13177440, essv13177780, essv13177906, essv13178013, essv13177474, essv13177866, essv13177930, essv13177952, essv13177413, essv13177418, essv13177683, essv13177892, essv13177463, essv13177744, essv13177603, essv13178071, essv13178054, essv13177826, essv13177856, essv13177626, essv13177763, essv13177842, essv13177639, essv13177757, essv13178066, essv13177873, essv13177878, essv13177953, essv13177935, essv13177984, essv13177989, essv13178064, essv13177499, essv13177505, essv13177643, essv13178087, essv13177662, essv13177622, essv13178030, essv13177877, essv13177445, essv13177459, essv13177963, essv13177940, essv13177598, essv13177850, essv13177465, essv13177582, essv13177916, essv13177703, essv13177965, essv13177657, essv13177761, essv13177860, essv13177737, essv13177494, essv13177720, essv13177937, essv13177628, essv13177706, essv13177672, essv13177783, essv13177442, essv13177682, essv13177790, essv13177946, essv13177769, essv13177443, essv13177507, essv13177887, essv13177429, essv13177600, essv13178089, essv13177748, essv13177513, essv13177809, essv13178049, essv13177451, essv13177715, essv13177840, essv13177791, essv13177623, essv13177882, essv13177543, essv13177993, essv13177502, essv13177849, essv13178011, essv13177797, essv13177620, essv13177559, essv13177702, essv13177997, essv13178039, essv13178035, essv13177999, essv13178088, essv13177614, essv13177754, essv13178094, essv13177476, essv13177992, essv13178012, essv13177447, essv13177834, essv13177766, essv13177773, essv13177740, essv13177699, essv13177884, essv13177927, essv13178093, essv13177449, essv13177520, essv13177700, essv13177530, essv13177583, essv13177814, essv13177437, essv13177799, essv13177483, essv13177917, essv13177943, essv13177438, essv13177985, essv13177572, essv13177902, essv13177949, essv13177752, essv13177435, essv13177910, essv13177488, essv13177516, essv13177792, essv13177681, essv13177824, essv13177895, essv13177500, essv13177857, essv13177994, essv13177684, essv13177913, essv13178026, essv13177691, essv13177912, essv13177918, essv13177493, essv13178055, essv13177576, essv13177896, essv13177948, essv13177982, essv13177979, essv13177617, essv13177454, essv13177954, essv13177665, essv13177738, essv13178059, essv13177410, essv13178080, essv13177820, essv13177923, essv13177446, essv13177778, essv13177728, essv13178040, essv13177869, essv13177698, essv13177853, essv13177611, essv13177687, essv13177641, essv13177584, essv13177886, essv13177973, essv13177475, essv13178077, essv13177467, essv13177708, essv13177696, essv13177721, essv13177645, essv13177823, essv13177686, essv13177526, essv13177525, essv13178078, essv13177649, essv13177433, essv13177460, essv13177472, essv13177741, essv13177854, essv13177704, essv13177647, essv13177570, essv13177755, essv13177421, essv13177750, essv13177644, essv13177680, essv13177419, essv13177426, essv13177760, essv13177714, essv13177839, essv13178018, essv13177666, essv13177511, essv13177541, essv13177621, essv13177880, essv13177746, essv13177605, essv13177874, essv13177964, essv13177506, essv13177606, essv13177772, essv13177580, essv13177975, essv13177977, essv13178016, essv13177883, essv13177831, essv13177496, essv13178023, essv13177637, essv13177955, essv13177585, essv13177742, essv13177775, essv13177833, essv13177945, essv13178005, essv13178057, essv13177941, essv13177987, essv13177627, essv13177537, essv13177734, essv13177864, essv13177810, essv13177921, essv13177829, essv13177458, essv13177461, essv13177549, essv13177944, essv13178095, essv13177650, essv13177551, essv13177881, essv13177428, essv13177693, essv13178096, essv13177613, essv13178029, essv13177538, essv13177890, essv13177767, essv13177971, essv13177450, essv13177633, essv13177870, essv13177457, essv13177504, essv13177571, essv13177800, essv13177876, essv13177618, essv13177653, essv13177468, essv13177664, essv13177825, essv13177771, essv13177968, essv13177782, essv13178081, essv13177595, essv13177609, essv13177862, essv13177777, essv13177795, essv13177588, essv13177679, essv13178021, essv13178050, essv13177485, essv13177512, essv13177753, essv13177903, essv13178001, essv13177914, essv13177597, essv13177920, essv13178025, essv13177487, essv13177991, essv13177776, essv13177962, essv13177436, essv13178097, essv13177490, essv13177441, essv13177564, essv13177422, essv13177718, essv13177981, essv13177635, essv13177756, essv13177836, essv13177950, essv13177498, essv13177591, essv13177798, essv13177478, essv13178069, essv13177785, essv13177479, essv13178003, essv13177417, essv13177608, essv13177867, essv13177932, essv13177424, essv13177430, essv13177533, essv13178036, essv13177563, essv13177573, essv13177602, essv13178073, essv13177998, essv13177480, essv13177899, essv13177471, essv13177835, essv13177848, essv13177492, essv13177546, essv13177656, essv13177727, essv13177966, essv13177817, essv13177466, essv13177705, essv13178027, essv13177781, essv13178031, essv13178067, essv13177689, essv13178020, essv13177522, essv13177452, essv13177503, essv13177575, essv13177897, essv13177818, essv13177959, essv13177414, essv13177462, essv13177550, essv13177789, essv13177969, essv13177536, essv13177893, essv13177843, essv13177735, essv13177974, essv13177768, essv13178070, essv13177630, essv13178010, essv13178082, essv13178009, essv13177554, essv13177491, essv13178047, essv13177495, essv13177545, essv13177547, essv13177736, essv13177816, essv13177978, essv13178051, essv13177865, essv13177908, essv13178068, essv13177871, essv13177710, essv13177794, essv13177552, essv13177670, essv13177660, essv13178061, essv13177558, essv13177956, essv13178084, essv13178032, essv13177764, essv13178033, essv13177610, essv13177701, essv13178019, essv13177784, essv13177455, essv13177444, essv13177489, essv13177938, essv13178045, essv13177425, essv13177593, essv13177889, essv13177416, essv13177607, essv13177632, essv13177813, essv13177697, essv13178024, essv13178043, essv13177663, essv13177821, essv13177844, essv13177412, essv13177651, essv13177988, essv13177828, essv13177557, essv13177695, essv13177555, essv13177928, essv13177804, essv13177961, essv13177986, essv13177434, essv13177423, essv13177590, essv13177806, essv13177540, essv13177658, essv13177726, essv13177868, essv13178028, essv13178053, essv13177409, essv13178058, essv13177615, essv13178072, essv13177642, essv13177730, essv13177709, essv13177970, essv13177581, essv13177733, essv13177717, essv13177807, essv13177822, essv13177926, essv13177688, essv13177805, essv13177911, essv13178007, essv13177995, essv13177851, essv13177898, essv13177509, essv13177648, essv13177616, essv13177875, essv13178075, essv13177531, essv13178008, essv13178085, essv13177724, essv13177544, essv13177567, essv13177578, essv13177751, essv13178074, essv13177524, essv13177464, essv13177561, essv13177732, essv13177808, essv13177786, essv13177517, essv13177762, essv13177788, essv13177592, essv13178076, essv13177719, essv13177888, essv13177894, essv13177983, essv13177634, essv13177523, essv13177900, essv13177589, essv13177904, essv13177676, essv13177477, essv13177774, essv13177852, essv13178052, essv13177432, essv13177942, essv13178056, essv13177722, essv13177838, essv13177919, essv13177508, essv13177675, essv13177668, essv13177837, essv13177510, essv13177652, essv13177739, essv13177667, essv13177841, essv13177712, essv13177819, essv13177967, essv13177569, essv13177519, essv13178000, essv13177501, essv13177659, essv13177976, essv13177456, essv13178002, essv13177565, essv13177812, essv13177497, essv13177793, essv13177527, essv13178086, essv13177796, essv13177674, essv13177514, essv13177770, essv13177469, essv13177936, essv13178091, essv13177420, essv13177872, essv13177957, essv13177909, essv13177933, essv13177599, essv13177743, essv13177711, essv13177407, essv13177415, essv13177427, essv13178065, essv13177481, essv13177529, essv13177815, essv13177646, essv13178014, essv13177586, essv13178048, essv13177408, essv13177625, essv13177604, essv13177907, essv13177972, essv13178022, essv13178042, essv13177685, essv13177846, essv13177729, essv13177801, essv13177716, essv13178015, essv13177473, essv13177534, essv13178062, essv13177553, essv13177779, essv13177905, essv13177694, essv13177931, essv13177858, essv13177847
SamplesNA20876, HG01770, HG00257, HG03646, HG01104, HG02275, HG02736, HG00328, NA20752, HG01089, HG00112, HG01444, HG00186, NA12347, NA20796, HG02334, HG02896, NA11918, HG02792, NA19223, NA19435, HG01777, NA20296, HG01403, HG03452, HG04056, HG01325, NA19788, NA20800, HG03829, NA20894, HG00139, HG01605, HG02977, HG00364, NA21135, HG01167, NA12058, HG00334, HG00355, NA20763, HG00335, HG01101, HG04214, NA20845, HG04094, HG03916, HG02150, HG03812, NA20853, HG01468, HG02420, HG02775, NA11919, NA12763, NA20875, HG04144, HG01312, NA12004, HG01305, HG03882, HG02233, HG02221, HG01048, HG03624, HG01088, HG01124, HG03770, NA12273, HG03793, HG03851, NA11831, NA11894, NA20520, HG01161, HG04063, NA12234, NA12144, NA20847, HG00306, HG02236, HG03757, HG02814, HG03085, HG03786, HG01516, HG03792, HG02285, HG00732, NA12778, HG03854, HG03673, HG00365, HG03547, HG02786, HG00099, NA11892, HG02266, HG01351, HG03788, HG00101, HG01494, HG01260, HG02852, NA21093, NA20766, NA21092, HG01383, NA20813, NA19789, HG00236, HG01512, HG01531, HG01921, HG00120, HG02570, HG00109, HG01565, HG01094, HG01697, NA12890, NA20525, HG01137, NA19729, NA12272, NA20756, HG01095, HG03772, HG04022, HG01345, NA19025, NA20827, HG02238, HG01632, NA12413, HG03238, HG03990, HG03716, HG01256, HG02230, NA12889, HG03267, HG03367, NA21087, HG02628, HG03872, NA20287, NA20318, HG00118, HG03018, NA19755, HG04035, NA12878, HG02252, HG03123, NA21089, HG00379, HG01945, NA20317, HG01485, HG00123, HG00285, HG04039, HG01164, NA19732, HG04177, HG01108, HG01951, HG02271, NA19752, HG02682, NA12045, NA11932, HG02445, NA11829, HG03830, HG03908, HG01498, HG04015, NA12874, NA19350, HG02813, NA20804, NA20806, HG04171, HG03720, HG00376, HG02332, HG02860, NA18881, HG03991, HG00126, HG03777, NA19746, HG01354, HG01578, HG02253, HG01617, HG03689, HG03937, HG04131, HG01372, HG01513, HG01613, NA12827, NA12718, HG00313, HG03832, NA12043, NA19625, HG00734, HG01359, HG01518, HG01768, HG01775, NA12249, HG00318, NA21142, HG00356, HG02793, NA12750, HG01790, NA20514, HG00304, HG01675, NA11930, NA21125, NA07037, HG01700, NA20278, NA20809, NA20503, HG01438, HG01942, HG01072, NA20785, NA20868, HG02697, NA20866, HG01075, NA20506, NA18933, HG01055, HG03084, HG02655, NA20516, NA20906, HG01064, HG00245, HG02284, HG02600, HG02983, NA19310, NA19783, HG01944, HG03304, HG01506, HG03634, HG00310, HG00384, HG01935, NA19455, NA06989, NA12340, NA20802, HG02979, NA19670, NA20511, HG01085, HG01431, HG00117, NA20808, HG01528, HG03894, NA20529, HG00375, HG02002, NA19338, HG01524, NA20778, HG03234, HG01286, HG02105, HG01704, HG00190, HG01182, HG01679, HG01131, HG01771, HG02146, HG01680, NA20900, HG02231, HG03294, HG03680, NA20588, HG01204, HG01500, HG02790, NA12776, NA19648, HG03765, HG00366, HG02232, NA11893, HG00331, NA20895, HG00146, HG03928, HG03960, HG04100, HG02789, HG03488, HG01348, HG03947, HG02583, NA12044, NA20877, HG01504, NA19654, NA20586, HG04076, HG00244, HG00266, HG01311, HG02003, NA19762, HG03667, HG01254, HG00321, HG00339, HG02053, NA20761, HG04219, NA19428, NA20585, NA18912, NA19383, NA12843, HG00179, HG01140, HG02634, HG01510, HG03672, NA20819, HG02654, NA12282, NA20515, NA19652, HG03021, HG00337, HG00140, NA12155, HG00180, HG00332, NA07357, NA20757, NA18644, NA19792, HG02577, HG03774, HG03899, HG00231, NA20783, HG00372, HG01495, HG02658, NA20801, HG01272, HG01785, NA20754, HG00141, HG04194, NA20762, HG00330, NA07048, NA19351, NA11933, NA20541, HG00150, HG03965, NA20765, NA20882, HG00178, HG03871, HG00258, HG01997, HG02220, HG03539, HG01527, HG04099, HG00264, HG01707, HG03027, NA19658, NA12830, NA21144, HG00357, NA20589, HG00237, HG02756, HG03685, NA20773, HG00114, HG02224, NA12006, HG00742, HG03731, HG03773, HG00159, HG02304, HG03902, NA20901, HG02325, NA19759, HG01705, HG01413, HG03998, HG01308, NA20536, HG00268, HG01066, HG03209, NA19375, NA20126, NA20767, HG03914, NA20826, HG03743, HG01271, HG02278, HG03919, NA06986, HG00260, HG03782, NA20864, HG02439, HG00239, HG03944, HG04080, NA18749, HG03974, HG00232, HG01676, NA18858, HG00116, HG00132, HG04029, HG02494, HG02771, HG02780, HG03733, NA20821, HG00246, HG01509, HG01767, NA21095, NA19307, HG03945, HG02690, NA19462, HG03943, NA20891, HG02582, HG01933, NA21103, HG00151, HG01779, NA10851, HG02301, HG01326, NA21126, NA20357, HG01405, HG02235, HG03875, HG01971, HG01973, HG01334, HG01626, NA12749, HG04047, NA20799, NA06984, HG01586, HG01673, HG01953, HG01269, HG03694, HG00138, HG02604, HG02629, NA12156, HG00262, HG00362, NA19719, HG00378, HG00311, NA20509, HG02141, HG02561, NA20513, NA11992, NA12003, HG01464, NA19749, HG00281, HG01783, HG02589, NA21117, HG01619, NA20812, HG02678, HG02679, HG03607, HG01058, HG03809, HG01746, HG01251, NA19118, HG00367, HG02286, NA19095, HG04189, NA20768, HG00324, NA20528, HG00288, NA18853, NA21105, HG01374, HG01522, HG03012, HG01489, NA20870, HG01110, HG01678, HG02574, NA12760, HG03826, NA20517, HG01789, HG02493, NA20519, HG01976, HG00136, HG02215, NA20899, NA12775, HG01067, HG01536, NA19922, NA19439, HG00361, HG01198, HG02282, HG01607, HG01610, HG03697, HG01761, HG00309, HG00157, HG00252, HG02882, NA07347, NA20787, HG03861, HG00182, HG03668, HG01530, HG03784, HG01519, NA12342, HG00129, HG03744, HG00351, HG03593, HG01083, NA20510, HG03741, NA20535, HG00155, HG02601, HG04096, HG02223, NA12815, NA10847, NA19319, NA20759, HG01197, HG01615, HG02104, NA12828, NA19795, HG01174, HG01537, HG03746, NA12005, HG01606, HG03458, NA21104, HG01507, HG01762, NA20539, HG01958, HG03103, NA20897, HG01344, NA07051, HG02817, HG03491, HG04176, HG02613, HG00177, HG00113, HG01142, NA20798, HG00319, HG00737, HG00253, HG03808, HG01608, HG01171, NA20340, HG00269, HG03836, HG01917, HG03941, HG02312, HG01107, HG02731, NA20896, HG04206, NA19314, NA19735, HG01392, HG02700, NA21097, NA20764, HG00240, NA20811, HG04164, HG00096, HG01756, HG01709, HG04153, HG01694, HG02012, HG02090, HG03787, HG01684, HG01360, HG01589, HG02143, HG02348, HG01879, NA11995, HG00174, HG00276, HG01247, HG01362, HG01747, HG01625, HG02737, HG02757, NA12751, NA20769, HG03869, NA19380, HG01111, HG01437, NA20587, NA12716, NA19771, HG00110, HG01191, HG02768, NA20790, HG00185, NA20795, HG00255, NA20753, NA19119, HG00265, HG02501, HG00277, HG03096, HG00103, HG03778, NA20815, NA20797
Known GenesZMAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616975
Frequency
Sample Size2504
Observed Gain0
Observed Loss691
Observed Complex0
Frequencyn/a


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