Variant Details

Variant: esv2673780

Internal ID

9593199

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:29237097..29239401	hg38	UCSC Ensembl
	chr22:29633086..29635390	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	2305
hg19	2305

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5728619, essv6124929, essv6122629, essv6499457, essv5842523, essv6293795, essv6387470, essv6507739, essv6257110, essv6323244, essv6097301, essv5711189, essv5553261, essv5751588, essv5576311, essv6215625, essv6053682, essv6578533, essv6541882, essv5444032, essv6158576, essv5577110, essv6338710, essv5641232, essv5664631, essv5779260, essv5806762, essv5643633, essv6155024, essv6097085, essv5610229, essv6515016, essv6204375, essv6200299, essv6101830, essv6459323, essv5953277, essv6486835, essv6373105, essv6181354, essv5731158, essv5999300, essv5491797, essv5458862, essv5747355, essv5719467, essv6267577, essv6167018, essv5625800, essv6272253, essv6036066, essv6516585, essv5887776, essv5827740, essv6351203, essv5837372, essv5468020, essv5845853, essv5813926, essv5906738, essv6289451, essv5644723, essv5833137, essv5527333, essv6177591, essv6134915, essv6189589, essv6505733, essv5812153, essv6522928, essv6263584, essv5651603, essv6203142, essv5877487, essv6463955, essv5595870, essv5998102, essv6376828, essv6005447, essv5473173, essv6431503, essv6056263, essv6587611, essv5703570, essv6413701, essv5490973, essv5517641, essv5532129, essv5631558, essv5529157, essv5498975, essv5512494, essv6448904, essv6456095, essv5497853, essv5941502, essv5560318, essv6380042, essv5688119, essv6424601, essv6339716, essv6079142, essv5944825, essv6019213, essv5739260, essv6454802, essv6334390, essv5687595, essv6303712, essv5435924, essv5529622, essv5513816, essv6339198, essv5856528, essv6318044, essv5668537, essv6553346, essv5746909, essv5773969, essv5591156, essv6167246, essv6596593, essv5690195, essv5929056, essv6030800, essv6340772, essv5514289, essv5852260, essv5855629, essv6574650, essv6114884, essv5998968, essv5622238, essv5498332, essv5955070, essv5963971, essv6540025, essv5693898, essv6077689, essv6006160, essv6280891, essv6140090, essv6283447, essv6128271, essv6543144, essv6468688, essv6249043, essv6474215, essv5397965, essv6362116, essv6487201, essv5889957, essv5928317, essv6342735, essv6248203, essv6464419, essv6006920, essv5485983, essv6234364, essv6550784, essv6099201, essv5852403, essv5852085, essv6442987, essv6000248, essv5607664, essv6276315, essv6000526, essv5789180, essv5816816, essv5811253, essv6349173, essv5419310, essv5854699, essv5728637, essv6264373, essv5412359, essv5616420, essv6405002, essv6086774, essv6049154, essv6169138, essv6120981, essv6066836, essv6022120, essv5670728, essv5739068, essv5884061, essv6444927, essv5692787, essv6234941, essv6158906, essv6508051, essv5538484, essv5954243, essv5598107, essv6432101, essv5830210, essv5662067, essv5671817, essv6400841, essv5534335, essv5798524, essv6502699, essv5995104, essv5975168, essv5614667, essv5673372, essv6584605, essv6046969, essv5964430, essv5592779, essv5520914, essv6466792, essv5787831, essv6549992, essv6411289, essv6022875, essv5577142, essv5729113, essv5750674, essv5969724, essv5523960, essv5847808, essv6263119, essv5765890, essv5562174, essv5599720, essv5921982, essv5897001, essv5510651

Samples

NA19394, NA19701, HG00608, NA19909, NA20508, NA19066, NA19204, NA18508, NA18565, NA12414, NA20514, HG00151, NA20816, NA20512, NA20332, HG01461, HG00654, NA19443, NA20356, NA19920, NA18510, HG00663, NA20814, NA19446, NA18563, NA19373, NA20589, NA18916, NA18574, NA07048, NA19457, HG01083, NA20287, NA19904, HG00243, HG00158, HG00148, NA18868, NA19372, NA18985, NA20342, HG00253, NA18951, NA20535, NA19070, NA19403, HG00657, NA19455, NA19663, HG00556, HG00263, NA18871, NA18534, NA20525, HG00324, NA19084, HG00690, HG00479, NA20581, NA12829, NA19750, NA18912, NA19059, NA19452, NA18963, HG00704, NA19469, NA19318, NA19395, NA18570, NA19012, NA19003, HG00611, NA19652, NA19440, HG00254, NA19390, NA19147, NA18517, NA19434, NA18628, NA12272, NA19331, NA19835, NA19679, NA19470, NA19428, NA19311, NA18943, NA19360, NA12347, NA18501, HG00614, NA06994, NA18631, HG00267, NA19474, HG00310, NA19102, NA11843, NA19116, NA19900, NA18983, NA19129, NA18968, NA19463, NA19063, NA18612, NA19429, NA19346, HG01437, HG00553, HG00593, HG00626, HG00096, NA19700, HG00536, NA19397, NA18924, NA19466, HG00361, HG01359, NA19332, NA19704, HG01188, NA19092, NA18486, NA19819, NA12058, NA20346, HG00177, NA18870, NA12400, NA19068, NA19381, NA19076, NA19382, NA18489, NA19728, HG00702, NA18982, HG00330, NA19197, NA19138, NA18498, NA19681, NA19404, HG01067, NA18874, NA20819, NA06984, HG00262, NA19371, NA19385, HG00422, NA19471, NA18986, NA19087, NA12889, NA19159, HG00309, NA19189, HG00637, HG00159, NA19209, NA18975, NA18908, HG00530, HG00419, NA19451, NA18614, NA10847, HG00188, NA19247, NA19210, HG01384, NA19462, HG00653, HG00701, NA19327, NA19236, NA18637, HG00500, NA18630, NA19776, HG00708, HG01390, HG01073, HG00273, HG00373, NA18499, NA18856, NA12892, NA20282, NA19338, NA19160, NA20296, NA19401, NA12716, HG00285, NA18952, HG00565, NA19473, NA19732, HG01253, NA19435, NA19334, HG01494, NA19439, NA19467, HG00319, HG01108, NA20797, NA19818, NA19376, NA20348, NA18971, NA19438, HG00421, HG00656, NA19713, HG00174, HG00186, NA19726, HG00372, NA18984, NA18505, NA18488, NA20322, NA18549, HG01191

Known Genes

EMID1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2673780

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	231
Observed Complex	0
Frequency	n/a