Variant Details

Variant: esv3647624

Internal ID

6687678

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:33359627..33364118	hg38	UCSC Ensembl
Inner	chr22:33359777..33363968	hg38	UCSC Ensembl
Outer	chr22:33359477..33364268	hg38	UCSC Ensembl
	chr22:33755613..33760104	hg19	UCSC Ensembl
Inner	chr22:33755763..33759954	hg19	UCSC Ensembl
Outer	chr22:33755463..33760254	hg19	UCSC Ensembl

Cytoband

22q12.3

Allele length

Assembly	Allele length
hg38	4492
hg19	4492

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16407818, essv16407999, essv16408051, essv16407863, essv16407861, essv16407974, essv16407812, essv16407851, essv16407912, essv16408014, essv16408049, essv16408010, essv16408062, essv16407951, essv16407873, essv16407820, essv16408008, essv16407823, essv16408040, essv16407839, essv16407945, essv16407998, essv16407833, essv16407917, essv16407796, essv16408029, essv16407976, essv16407783, essv16407773, essv16407962, essv16407862, essv16408011, essv16407984, essv16407880, essv16407918, essv16407824, essv16407970, essv16407967, essv16407843, essv16407881, essv16408003, essv16407889, essv16407907, essv16407996, essv16408045, essv16408000, essv16408015, essv16407848, essv16407789, essv16407799, essv16407853, essv16407946, essv16407991, essv16408060, essv16407802, essv16408058, essv16407939, essv16408020, essv16407883, essv16408026, essv16407817, essv16407896, essv16407828, essv16407985, essv16407913, essv16407788, essv16407893, essv16408047, essv16408022, essv16407988, essv16407785, essv16407782, essv16407938, essv16408054, essv16408038, essv16408044, essv16407874, essv16407819, essv16408031, essv16407797, essv16407854, essv16407960, essv16407840, essv16407772, essv16407903, essv16407937, essv16408016, essv16408053, essv16407943, essv16407966, essv16407876, essv16407827, essv16407895, essv16408030, essv16407800, essv16407856, essv16407994, essv16408027, essv16407993, essv16407905, essv16407904, essv16408052, essv16407954, essv16407804, essv16407952, essv16407916, essv16407921, essv16408024, essv16407806, essv16408005, essv16408007, essv16407805, essv16407890, essv16407858, essv16407975, essv16407906, essv16407933, essv16407846, essv16407910, essv16408001, essv16408004, essv16407816, essv16407877, essv16408034, essv16407826, essv16408019, essv16407973, essv16407864, essv16408050, essv16408035, essv16407769, essv16407914, essv16407776, essv16407983, essv16407956, essv16407899, essv16407885, essv16407798, essv16407845, essv16407869, essv16407979, essv16407836, essv16408059, essv16407777, essv16407850, essv16407955, essv16407875, essv16407815, essv16407791, essv16408012, essv16407924, essv16408021, essv16407778, essv16407872, essv16407849, essv16407929, essv16407868, essv16407829, essv16408046, essv16407911, essv16407821, essv16407860, essv16407958, essv16408017, essv16407950, essv16407997, essv16407855, essv16407859, essv16407888, essv16407835, essv16408048, essv16407947, essv16408057, essv16407784, essv16407892, essv16407774, essv16407813, essv16408041, essv16407852, essv16407878, essv16407838, essv16407830, essv16408037, essv16407930, essv16407814, essv16407934, essv16407961, essv16407811, essv16408028, essv16407969, essv16407968, essv16407982, essv16407925, essv16407923, essv16407822, essv16407897, essv16407857, essv16407963, essv16407810, essv16407936, essv16407990, essv16407787, essv16407953, essv16407972, essv16407942, essv16408036, essv16407882, essv16407949, essv16407871, essv16407898, essv16407941, essv16408033, essv16407915, essv16407870, essv16407926, essv16408043, essv16407965, essv16407944, essv16408009, essv16407928, essv16407842, essv16408042, essv16407867, essv16407981, essv16407792, essv16408055, essv16407901, essv16407935, essv16407786, essv16407837, essv16407894, essv16407865, essv16407780, essv16407932, essv16408025, essv16407834, essv16407781, essv16407879, essv16407794, essv16408023, essv16408018, essv16407964, essv16407986, essv16407908, essv16407831, essv16407770, essv16407841, essv16407927, essv16408061, essv16407957, essv16407971, essv16407989, essv16408006, essv16407978, essv16407922, essv16407995, essv16407866, essv16407919, essv16407987, essv16407909, essv16407803, essv16408032, essv16407801, essv16407790, essv16408013, essv16407887, essv16407808, essv16407825, essv16407931, essv16407980, essv16407902, essv16408039, essv16407891, essv16407775, essv16407844, essv16408002, essv16407832, essv16407793, essv16407884, essv16407779, essv16407795, essv16407920, essv16407809, essv16407959, essv16407977, essv16407771, essv16407886, essv16407807, essv16407847, essv16407992, essv16407948, essv16407900, essv16407940, essv16408056

Samples

NA20588, NA19028, HG03593, HG01412, HG01173, HG03121, NA20891, NA18947, NA12273, HG00358, HG02784, HG01602, HG03517, NA21100, NA12843, HG01326, HG00151, HG02012, HG03229, NA21137, NA20864, HG02215, HG01947, HG02688, HG00261, HG03679, HG04156, HG03009, HG03837, HG00641, HG03645, NA21135, HG03016, HG03754, HG01676, HG02146, HG04042, NA18547, HG04182, NA11918, NA20768, HG03978, HG02733, HG03040, HG00311, HG00243, HG03917, HG00158, NA11930, HG04033, HG04183, NA19024, HG03691, NA19235, NA19172, HG03947, HG01525, HG03814, HG00118, NA21129, HG01121, HG01626, NA20318, HG00349, HG00154, NA20904, HG00443, HG00266, HG03714, HG04146, NA19403, HG03907, NA19455, HG02775, NA12718, HG03805, HG02014, NA20832, HG01149, HG01675, HG04177, HG03781, HG01630, HG03967, HG03301, NA20867, NA20866, HG02445, HG03802, HG04173, HG01130, HG04063, HG02666, NA12144, HG00246, HG01988, HG04093, HG01625, HG02675, HG01896, NA12043, NA18953, HG02660, NA20872, NA19309, HG00265, NA19147, HG03875, NA19747, HG00353, HG03949, HG02790, HG00580, NA12272, HG03692, HG02721, HG01685, NA12873, HG01396, HG02611, HG01174, HG01375, HG03259, HG02982, HG03870, HG03304, HG02558, HG00339, HG03703, HG03103, NA20897, HG03600, HG00478, HG03112, HG00381, HG03977, HG03097, HG03733, HG01302, NA21093, HG03716, HG02768, HG03077, HG02774, NA20503, NA19030, HG01125, HG02805, HG01509, HG01776, NA20908, HG01786, NA19431, HG00255, HG00593, NA20762, HG03690, NA20874, HG03096, NA21110, HG03800, NA20877, HG01773, HG03821, HG03237, NA19332, HG04229, HG01537, HG04194, HG02433, HG03767, NA21092, NA19020, HG04094, NA12004, HG00364, HG03772, NA12058, HG04164, HG03895, NA19314, HG03836, HG01503, NA19005, NA12812, HG03640, HG01779, HG03499, HG02541, HG03937, NA20900, NA20905, HG00330, HG03905, NA11992, HG03793, NA19404, HG01893, HG04214, HG02493, HG01398, HG01067, HG03968, HG02490, HG00106, NA06984, HG00236, NA18977, HG01495, HG01281, HG04106, HG01767, HG01308, NA19385, HG03696, HG03777, NA20869, HG00182, HG02502, NA20884, HG03750, NA20587, NA12748, HG01524, HG01136, HG03902, NA20858, NA20524, HG02511, HG02108, NA18939, NA19982, HG04035, HG03945, NA21118, HG02537, HG01049, HG01615, HG01161, NA19449, HG01504, NA20881, HG01182, HG01791, HG03740, HG00613, HG03634, NA19756, HG03774, NA20534, HG01204, HG02484, HG00128, NA19436, NA19206, HG03866, HG02696, HG00375, HG02651, HG01623, HG03488, NA19310, HG03846, HG01108, HG04090, HG03557, NA21125, HG00107, HG01770, NA19248, HG03789, HG01556, HG02646, NA12749, HG01254, HG03022, HG03258, HG02462, HG03684, HG02239, HG00234, HG03894, HG03538, HG02051, HG03162, HG04161, HG03890, HG01566, NA18511, NA21104, HG03931, HG01695, HG00362, NA20511

Known Genes

LARGE

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647624

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	294
Observed Complex	0
Frequency	n/a