A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630934



Internal ID6671067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121063111..121157572hg38UCSC Ensembl
chr12:121500914..121595375hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3894462
hg1994462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618862, essv14618923, essv14618968, essv14618848, essv14618949, essv14618798, essv14618939, essv14618830, essv14618980, essv14618960, essv14618851, essv14618951, essv14618863, essv14618899, essv14618977, essv14618950, essv14618941, essv14618801, essv14618861, essv14618849, essv14618854, essv14618766, essv14618838, essv14618972, essv14618787, essv14618891, essv14618888, essv14618777, essv14618799, essv14618807, essv14618775, essv14618800, essv14618762, essv14618913, essv14618928, essv14618820, essv14618872, essv14618763, essv14618894, essv14618910, essv14618837, essv14618978, essv14618957, essv14618887, essv14618954, essv14618759, essv14618796, essv14618975, essv14618882, essv14618924, essv14618874, essv14618938, essv14618966, essv14618826, essv14618877, essv14618893, essv14618889, essv14618858, essv14618948, essv14618952, essv14618793, essv14618818, essv14618811, essv14618947, essv14618875, essv14618869, essv14618806, essv14618822, essv14618859, essv14618873, essv14618774, essv14618884, essv14618771, essv14618765, essv14618791, essv14618933, essv14618840, essv14618916, essv14618803, essv14618935, essv14618921, essv14618929, essv14618971, essv14618846, essv14618805, essv14618804, essv14618834, essv14618776, essv14618839, essv14618767, essv14618976, essv14618760, essv14618786, essv14618963, essv14618821, essv14618879, essv14618871, essv14618931, essv14618842, essv14618895, essv14618883, essv14618802, essv14618946, essv14618788, essv14618855, essv14618880, essv14618790, essv14618932, essv14618907, essv14618778, essv14618810, essv14618784, essv14618794, essv14618825, essv14618856, essv14618917, essv14618808, essv14618815, essv14618860, essv14618781, essv14618902, essv14618866, essv14618959, essv14618831, essv14618845, essv14618857, essv14618833, essv14618918, essv14618945, essv14618768, essv14618772, essv14618761, essv14618904, essv14618785, essv14618792, essv14618970, essv14618981, essv14618890, essv14618816, essv14618915, essv14618841, essv14618896, essv14618812, essv14618961, essv14618843, essv14618835, essv14618920, essv14618911, essv14618770, essv14618905, essv14618936, essv14618827, essv14618909, essv14618809, essv14618769, essv14618847, essv14618823, essv14618764, essv14618819, essv14618898, essv14618930, essv14618955, essv14618844, essv14618919, essv14618925, essv14618926, essv14618779, essv14618967, essv14618885, essv14618878, essv14618897, essv14618901, essv14618876, essv14618814, essv14618881, essv14618797, essv14618903, essv14618965, essv14618864, essv14618953, essv14618870, essv14618934, essv14618979, essv14618956, essv14618927, essv14618780, essv14618865, essv14618868, essv14618964, essv14618908, essv14618958, essv14618789, essv14618795, essv14618969, essv14618824, essv14618850, essv14618852, essv14618914, essv14618940, essv14618973, essv14618922, essv14618974, essv14618836, essv14618962, essv14618813, essv14618817, essv14618828, essv14618943, essv14618832, essv14618829, essv14618782, essv14618892, essv14618937, essv14618912, essv14618773, essv14618783, essv14618900, essv14618944, essv14618886, essv14618853, essv14618867, essv14618906, essv14618942
SamplesHG01607, HG02057, HG02122, HG02724, HG02725, HG03697, HG03755, NA20903, HG03968, HG02793, HG01241, HG01846, HG03760, HG03785, HG03861, HG02275, NA20890, HG03784, HG01302, HG03479, HG02697, HG03977, HG01918, HG03744, HG04202, HG01873, HG02546, HG03711, HG02655, HG03856, HG03868, HG02600, HG02549, HG03693, HG01970, HG03634, HG02601, HG02792, HG04014, HG04211, HG01777, HG01845, HG03643, HG02648, HG03896, HG04056, HG01850, HG03663, HG03894, HG02733, HG03653, HG03234, NA21104, HG01954, HG04216, HG02660, HG01204, HG02790, HG03491, HG03967, HG04002, HG04214, HG04200, HG01961, HG04094, HG03960, HG04020, HG02685, HG04100, HG02789, HG01848, HG03949, HG02778, HG03947, HG01968, HG04209, HG03687, HG04076, HG03752, HG03836, HG01311, HG03652, HG03667, HG03690, HG04238, HG04219, HG04098, HG02775, HG04210, HG03235, HG03736, HG03672, HG01392, HG02696, HG03021, HG03779, HG01414, HG03882, HG02121, NA18563, HG02577, HG01395, HG02658, HG03717, HG03770, HG03862, HG03844, NA11933, HG03965, HG01977, HG02348, HG02078, HG04063, HG03864, NA20892, HG01187, HG03781, HG03722, HG03848, NA21102, HG03742, HG02076, HG03780, HG02058, HG02603, HG03869, HG01874, HG01974, HG03731, HG03773, HG04017, HG02490, HG04025, HG00360, HG03792, HG02102, HG03995, HG03660, HG03854, HG03673, HG04070, HG02786, HG03754, HG03782, HG03934, HG03944, HG02501, HG04080, HG04239, HG01967, HG03849, HG03974, HG01176, HG03740, HG03873, HG02787, HG02780, HG03788, HG03733, HG04212, HG03645, HG02545, HG02072, HG03738, HG03978, HG03228, HG03692, HG02690, HG03943, HG01979, HG04235, HG01779, HG01063, HG02491, HG02128, HG04033, NA20911, HG03875, HG01971, HG01973, HG03772, HG03745, HG01953, HG03866, HG04019, HG01872, HG02688, HG03238, HG03986, HG03644, HG03716, HG02075, HG01303, HG01893, HG03872, HG03018, HG04035, HG03999, HG01412, HG02252, HG01992, HG04018, HG02687, HG03890, HG03857, HG01855, HG01951, HG03016, HG03838, HG02728, HG03850, HG04006, HG03837, HG02784, HG03720, HG01890, HG02493, HG03730, HG03490, HG02774, HG01980, HG03777, HG03775
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630934
Frequency
Sample Size2504
Observed Gain0
Observed Loss223
Observed Complex0
Frequencyn/a


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