A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628254



Internal ID6668397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:759212..765324hg38UCSC Ensembl
chr12:868378..874490hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386113
hg196113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329857, essv14329984, essv14330154, essv14330187, essv14329976, essv14330022, essv14329946, essv14329886, essv14329856, essv14330120, essv14330038, essv14330075, essv14330035, essv14330023, essv14330061, essv14330018, essv14330110, essv14329956, essv14329911, essv14329832, essv14330047, essv14330181, essv14329863, essv14329830, essv14330125, essv14330004, essv14329866, essv14329927, essv14330077, essv14330072, essv14330148, essv14330056, essv14330078, essv14329859, essv14330124, essv14329849, essv14329914, essv14329826, essv14330011, essv14329977, essv14329955, essv14329945, essv14330153, essv14329848, essv14329981, essv14329888, essv14329892, essv14330186, essv14330096, essv14330126, essv14329861, essv14330178, essv14330149, essv14330043, essv14330027, essv14329906, essv14329854, essv14329890, essv14330007, essv14329969, essv14330062, essv14329895, essv14330064, essv14330111, essv14330123, essv14329889, essv14330176, essv14329930, essv14330168, essv14329952, essv14329885, essv14330177, essv14329852, essv14330113, essv14330005, essv14330103, essv14330104, essv14329937, essv14330119, essv14329876, essv14329916, essv14330188, essv14330013, essv14330141, essv14330040, essv14330182, essv14329837, essv14329967, essv14330050, essv14329982, essv14329920, essv14330093, essv14330131, essv14330020, essv14330051, essv14330084, essv14330151, essv14330079, essv14329941, essv14330080, essv14330028, essv14329922, essv14330165, essv14330179, essv14330076, essv14330069, essv14329928, essv14329988, essv14329934, essv14329912, essv14330041, essv14330106, essv14329841, essv14329867, essv14330100, essv14329908, essv14329963, essv14330063, essv14329870, essv14329893, essv14330099, essv14329998, essv14329921, essv14330160, essv14329960, essv14330161, essv14329991, essv14329827, essv14330089, essv14330169, essv14329954, essv14329858, essv14330112, essv14330134, essv14330094, essv14330065, essv14329990, essv14330175, essv14330031, essv14329862, essv14329974, essv14330060, essv14329899, essv14329835, essv14330068, essv14330030, essv14329853, essv14330101, essv14329884, essv14329883, essv14329877, essv14329851, essv14330129, essv14329918, essv14330090, essv14330098, essv14329872, essv14330171, essv14329874, essv14329973, essv14329839, essv14329843, essv14330156, essv14330039, essv14329966, essv14330083, essv14329881, essv14329985, essv14329828, essv14330014, essv14330142, essv14329913, essv14330017, essv14329869, essv14330021, essv14330163, essv14330095, essv14330127, essv14330001, essv14330164, essv14330006, essv14329915, essv14329897, essv14329879, essv14330189, essv14329844, essv14329838, essv14330044, essv14329962, essv14330114, essv14329902, essv14330026, essv14330150, essv14329836, essv14329868, essv14330145, essv14330137, essv14329878, essv14330029, essv14329953, essv14330147, essv14330057, essv14329951, essv14329970, essv14330183, essv14329923, essv14330158, essv14329958, essv14329980, essv14330140, essv14330159, essv14330058, essv14329995, essv14329999, essv14330000, essv14330184, essv14329910, essv14330037, essv14329833, essv14329846, essv14330155, essv14330116, essv14330059, essv14330046, essv14330136, essv14329924, essv14329931, essv14329864, essv14329845, essv14329887, essv14330102, essv14329979, essv14330053, essv14329993, essv14329865, essv14330097, essv14329939, essv14329986, essv14329919, essv14329840, essv14329907, essv14330025, essv14330034, essv14329926, essv14330008, essv14329933, essv14330048, essv14329834, essv14329978, essv14330121, essv14329940, essv14329905, essv14330157, essv14330015, essv14330146, essv14329898, essv14329936, essv14329992, essv14329903, essv14330087, essv14330052, essv14330167, essv14330138, essv14329871, essv14330024, essv14330074, essv14329947, essv14329891, essv14329932, essv14329961, essv14329950, essv14330190, essv14329935, essv14329894, essv14330066, essv14329896, essv14330174, essv14330173, essv14330002, essv14329987, essv14330115, essv14329824, essv14330071, essv14330019, essv14330009, essv14330108, essv14329882, essv14329850, essv14330172, essv14329971, essv14330117, essv14330107, essv14330088, essv14329847, essv14329909, essv14330042, essv14329944, essv14330109, essv14329943, essv14330082, essv14329925, essv14329831, essv14329880, essv14330139, essv14330130, essv14329983, essv14329860, essv14330105, essv14329825, essv14330045, essv14330012, essv14329873, essv14330122, essv14330049, essv14329949, essv14330170, essv14329996, essv14330085, essv14329917, essv14330135, essv14329904, essv14329997, essv14330180, essv14330118, essv14330032, essv14329968, essv14329938, essv14329989, essv14329972, essv14329875, essv14330152, essv14330003, essv14330132, essv14329994, essv14330133, essv14330067, essv14329957, essv14329929, essv14330033, essv14330055, essv14329901, essv14329948, essv14330086, essv14330036, essv14330092, essv14330191, essv14329855, essv14330166, essv14329965, essv14330143, essv14329842, essv14330144, essv14329942, essv14330128, essv14330016, essv14329964, essv14329900, essv14330162, essv14330073, essv14330054, essv14330185, essv14330010, essv14329975, essv14329959, essv14330070, essv14329829, essv14330081, essv14330091
SamplesNA20588, HG00189, NA20761, HG03593, HG02658, HG00650, HG00304, HG00102, NA12286, NA10851, HG00559, HG03753, HG00766, NA12843, HG03717, HG03449, HG00151, NA20752, HG02798, HG00233, NA20512, HG04076, HG03941, HG03616, HG01486, HG03926, HG02382, NA18616, NA20517, HG02688, HG02154, HG01461, HG01704, NA12750, HG03009, HG00663, HG00717, NA18563, HG01873, HG02185, HG02690, HG03943, HG03754, NA20589, HG02156, HG00674, NA21130, HG02383, HG04206, NA20756, HG00129, HG04182, HG03234, HG02733, HG00185, HG02603, HG00537, HG00158, HG00281, HG03887, HG01069, HG03910, HG01080, NA20775, NA11932, HG02389, HG02187, HG01849, HG02588, HG01525, HG02178, HG00118, HG01058, HG01121, HG00326, NA20757, HG00365, NA19027, NA20753, HG00349, HG00154, NA18605, HG00443, HG03861, NA19091, HG00380, HG01200, HG01670, HG03718, HG00332, HG02380, HG01979, NA19663, HG03491, HG01768, HG00583, HG03771, HG02728, NA20519, HG01796, HG03781, HG02878, NA20876, HG03823, HG00740, NA20525, NA20867, NA18879, HG01762, NA21124, HG00404, NA19042, HG03713, NA06989, HG04063, HG02783, HG01334, HG00146, HG03672, HG00704, HG03752, HG00463, NA12778, HG04176, HG04093, HG01075, HG04200, HG03720, HG00407, HG00258, NA20851, NA20799, NA19729, NA18632, HG00155, HG00254, HG04227, HG00336, HG03875, HG03708, HG01678, HG00353, HG02220, HG01878, HG02355, NA19835, HG01866, NA19679, HG04099, HG02137, HG02019, NA18615, HG00339, NA20906, HG02379, HG00513, NA20849, HG02235, HG00342, HG01302, NA20852, HG03716, HG02768, NA20786, HG04098, HG01269, NA19080, HG01468, HG00274, HG00105, NA20503, NA20502, HG01807, NA11892, NA12890, HG03985, HG01805, HG01776, NA20754, NA11832, NA20762, HG01746, NA21089, NA11995, HG03731, HG01773, HG00351, NA19914, HG02973, NA20899, HG02648, HG03767, NA19704, HG04211, HG03589, NA20813, NA18641, NA12045, HG04002, HG00318, HG00103, HG03668, HG01686, HG02058, HG00364, HG03963, NA21115, HG01456, HG02271, NA20808, HG00341, HG02734, HG01632, HG00879, NA12400, NA12155, HG03950, HG01694, HG01140, HG03235, HG04100, HG01341, HG02151, HG03757, NA20890, HG01064, HG03490, HG00173, HG03873, HG04144, NA12348, HG03905, NA11992, NA19023, NA20540, NA19054, HG03629, HG01510, NA20513, HG01668, HG02786, HG03594, NA20910, NA18611, HG03793, HG03868, HG03897, HG02395, HG00379, HG03268, HG02490, HG01813, HG01757, NA19917, HG01527, HG01767, HG03624, HG00422, HG01405, NA12889, NA12815, HG00309, HG01259, HG02073, HG03750, HG03832, NA21122, HG00260, NA18614, HG01353, HG00133, HG00188, HG03902, HG02166, NA18613, HG03054, HG01841, HG01797, HG00328, HG01790, HG00653, HG01162, HG01515, HG00475, HG03428, HG04019, NA21098, NA19658, HG01852, HG03021, HG02364, HG03563, HG01311, HG00273, HG01619, HG01512, NA19449, HG00956, HG00844, HG04054, HG01197, NA11894, HG02604, HG01707, HG01504, HG01182, HG01791, HG02283, NA19740, HG03854, HG03634, HG01705, HG01708, HG01679, HG01286, HG03755, NA18945, HG01363, HG03028, NA20801, NA12716, HG04134, HG00119, NA18559, HG02223, NA19749, NA19473, HG01894, HG00375, HG00357, HG01800, NA20804, HG03689, HG01958, HG00278, NA19773, HG03850, HG03012, HG02685, HG00319, NA20516, HG00256, NA21126, HG04003, HG03681, HG03019, HG00125, HG00107, HG01395, HG04023, HG00409, HG03646, HG01556, HG00378, HG00288, NA20807, HG00131, HG00343, HG00252, HG01464, HG03856, HG04056, HG00345, HG00554, HG01191, HG00180, HG01695, HG00978
Known GenesWNK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628254
Frequency
Sample Size2504
Observed Gain0
Observed Loss368
Observed Complex0
Frequencyn/a


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