Variant Details

Variant: esv3630934

Internal ID

6671067

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:121063111..121157572	hg38	UCSC Ensembl
	chr12:121500914..121595375	hg19	UCSC Ensembl

Cytoband

12q24.31

Allele length

Assembly	Allele length
hg38	94462
hg19	94462

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14618978, essv14618833, essv14618801, essv14618929, essv14618974, essv14618950, essv14618786, essv14618912, essv14618838, essv14618797, essv14618935, essv14618814, essv14618859, essv14618889, essv14618855, essv14618895, essv14618882, essv14618858, essv14618944, essv14618827, essv14618810, essv14618796, essv14618936, essv14618939, essv14618783, essv14618975, essv14618914, essv14618871, essv14618874, essv14618804, essv14618888, essv14618945, essv14618845, essv14618922, essv14618777, essv14618879, essv14618910, essv14618923, essv14618881, essv14618815, essv14618918, essv14618866, essv14618951, essv14618813, essv14618781, essv14618818, essv14618905, essv14618766, essv14618823, essv14618896, essv14618892, essv14618776, essv14618942, essv14618937, essv14618928, essv14618798, essv14618920, essv14618925, essv14618861, essv14618840, essv14618933, essv14618887, essv14618938, essv14618864, essv14618953, essv14618771, essv14618964, essv14618835, essv14618943, essv14618791, essv14618897, essv14618890, essv14618870, essv14618970, essv14618873, essv14618966, essv14618884, essv14618836, essv14618765, essv14618817, essv14618790, essv14618768, essv14618968, essv14618839, essv14618784, essv14618778, essv14618841, essv14618794, essv14618869, essv14618872, essv14618816, essv14618770, essv14618760, essv14618819, essv14618843, essv14618769, essv14618958, essv14618844, essv14618772, essv14618803, essv14618916, essv14618940, essv14618831, essv14618962, essv14618775, essv14618969, essv14618971, essv14618919, essv14618911, essv14618900, essv14618787, essv14618812, essv14618807, essv14618903, essv14618860, essv14618949, essv14618795, essv14618820, essv14618767, essv14618763, essv14618959, essv14618852, essv14618924, essv14618961, essv14618915, essv14618821, essv14618909, essv14618782, essv14618883, essv14618877, essv14618848, essv14618809, essv14618849, essv14618954, essv14618780, essv14618930, essv14618908, essv14618868, essv14618917, essv14618846, essv14618981, essv14618956, essv14618854, essv14618834, essv14618973, essv14618828, essv14618792, essv14618898, essv14618865, essv14618779, essv14618947, essv14618967, essv14618805, essv14618856, essv14618894, essv14618764, essv14618875, essv14618811, essv14618948, essv14618906, essv14618904, essv14618842, essv14618793, essv14618759, essv14618830, essv14618979, essv14618837, essv14618802, essv14618788, essv14618808, essv14618863, essv14618976, essv14618960, essv14618824, essv14618825, essv14618878, essv14618862, essv14618789, essv14618800, essv14618955, essv14618867, essv14618932, essv14618853, essv14618832, essv14618774, essv14618972, essv14618902, essv14618822, essv14618941, essv14618847, essv14618885, essv14618907, essv14618977, essv14618826, essv14618965, essv14618876, essv14618857, essv14618901, essv14618913, essv14618773, essv14618926, essv14618980, essv14618829, essv14618850, essv14618921, essv14618880, essv14618934, essv14618886, essv14618851, essv14618806, essv14618952, essv14618899, essv14618927, essv14618762, essv14618957, essv14618963, essv14618891, essv14618785, essv14618761, essv14618931, essv14618799, essv14618893, essv14618946

Samples

HG03864, HG03690, HG04212, HG04210, HG03773, HG02658, HG01850, HG01412, HG03857, HG01918, HG03652, HG02072, HG01303, HG03228, HG03965, HG03731, HG01961, HG03960, HG01855, HG03687, HG02784, HG02648, HG04202, HG03738, HG02122, HG04211, NA11933, HG03717, HG02275, HG01970, HG02078, HG04076, HG04002, HG04094, HG02600, HG02058, HG03772, HG04018, HG03018, HG01971, HG03667, HG03792, HG02688, HG03944, HG03836, HG03999, HG03782, HG02792, HG03837, NA18563, HG03235, HG01873, HG04100, HG03645, HG03770, HG03016, HG01953, HG02690, HG03943, HG03754, HG03722, HG01779, NA20890, HG03490, HG02491, HG03873, HG02687, NA20911, HG01968, HG03673, HG03736, HG02549, HG03663, HG02655, HG03234, HG01063, HG04070, HG03978, HG03479, HG02733, HG01848, HG02603, HG02786, HG04033, HG03868, HG01893, HG04214, HG02493, HG02252, HG03986, HG03968, HG02490, HG03788, HG03947, HG03777, HG01176, HG03693, HG01973, HG04238, HG03995, HG04020, HG03744, HG02545, HG02780, HG01967, HG03784, HG03862, HG03844, HG03780, HG03697, NA20892, HG03785, HG03861, HG01187, HG02793, HG02075, HG03644, HG02697, HG00360, HG03760, HG02057, HG02076, HG01979, HG03711, HG02775, HG03491, HG01845, HG04035, HG03775, HG04019, HG02728, HG02102, HG03781, HG01607, HG04235, HG03021, HG02789, HG03967, HG03742, HG01777, HG01392, HG01311, HG03730, HG01414, NA20903, HG03660, HG02577, HG02787, HG02121, HG01241, HG03974, HG03740, HG03643, HG04017, HG04063, HG03854, HG03745, HG03634, HG02724, HG02601, HG02725, HG03672, HG01890, HG03752, HG03755, HG01204, HG04200, HG03653, HG03934, HG01992, HG03720, HG03238, HG02660, HG04025, HG03866, HG04219, HG03848, HG04216, HG04006, HG01954, HG01980, HG03875, HG02501, HG02546, HG04239, HG02696, HG03949, HG03838, HG02790, HG03692, HG01874, HG01977, HG03850, HG03869, HG01951, HG01974, HG02685, HG03779, HG04080, HG01395, HG02128, HG03896, HG03977, HG03849, NA21102, HG04014, HG03733, HG01846, HG01302, HG04209, HG03716, HG04098, HG01872, HG03894, HG03872, HG02348, HG02774, HG03882, HG03856, HG04056, HG02778, HG03890, NA21104

Known Genes

P2RX7

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3630934

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	223
Observed Complex	0
Frequency	n/a