Variant Details

Variant: esv2678705

Internal ID

9598124

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:19112417..19113112	hg38	UCSC Ensembl
	chr22:19099930..19100625	hg19	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	696
hg19	696

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5607796, essv5586361, essv5415294, essv6381982, essv5452447, essv6590377, essv5694046, essv5606176, essv5970650, essv5617638, essv5675814, essv6517564, essv6261888, essv5482088, essv5971922, essv5771709, essv5904163, essv6061649, essv5624431, essv5565620, essv6548581, essv5779526, essv6151562, essv5882724, essv5497031, essv5519417, essv5664521, essv6156229, essv6162490, essv5800222, essv6215190, essv6233385, essv6448859, essv6597282, essv5580329, essv6236885, essv6059138, essv5601631, essv6074003, essv6351696, essv5748771, essv6457367, essv6568803, essv6358270, essv5935405, essv6329172, essv6363596, essv5855881, essv5861814, essv6301668, essv6368741, essv6580889, essv6481778, essv6088747, essv5865734, essv5939622, essv6458054, essv5898841, essv5876749, essv6021091, essv5662254, essv5747763, essv6170100, essv5467873, essv5612316, essv6247901, essv5929741, essv5584571, essv5587595, essv6534745, essv6198261, essv6021787, essv5854519, essv6156448, essv6364603, essv6059463, essv5727439, essv6287195, essv6596890, essv5980056, essv5955574, essv6116725, essv5572192, essv6398493, essv6180849, essv5967090, essv6224442, essv6423075, essv5736260, essv5465275, essv6578843, essv5514285, essv6482841, essv5592945, essv6225230, essv5440766, essv5884208, essv5836314, essv5460767, essv6581910, essv6550073, essv5498116, essv5902931, essv6554128, essv6039290, essv5948869, essv6454425, essv6298596, essv5602455, essv6580961, essv5929346, essv6008531, essv6498120, essv6025373, essv6348477, essv5691592, essv6140445, essv6355247, essv6238404, essv5687834, essv5465401, essv6516368, essv6316809, essv5776687, essv5562429, essv5832318, essv6180405, essv5458649, essv6341199, essv6401073, essv5458922, essv5440383, essv6026622, essv5433795, essv5405406, essv5593097, essv5906723, essv6081728, essv6070310, essv6208964, essv5687904, essv5634303, essv5397218, essv6065520, essv5687697, essv5474557, essv6183092, essv6533057, essv6243752, essv6231810, essv6271812, essv5642251, essv5472826, essv5944740, essv5535565, essv6241265, essv6091755, essv5770646, essv5436590, essv6061179, essv5927925, essv5563005, essv5575260, essv5474119, essv6223196, essv5828335, essv5467099, essv5986583, essv5868347, essv6200087, essv5825778, essv5677751, essv6515577, essv5641576, essv6324329, essv5524922, essv6148566, essv6103822, essv6265969, essv5639593, essv6588279, essv6408639, essv5654014, essv6068739, essv5916894, essv5647370, essv5819380, essv5598155, essv6350457, essv6168565, essv5396374, essv6074408, essv6534705, essv6475139, essv5464778, essv6324110, essv6581637, essv6471587, essv5533855, essv5871196, essv6256059, essv5698537, essv6485475, essv6563511, essv5479402, essv5529901, essv5457722, essv6095653, essv5541846, essv6327309, essv5648657, essv5619847, essv6046490, essv5508418, essv5627130, essv6457789, essv5622884

Samples

HG00323, NA18870, NA18964, HG01515, NA12718, NA19445, NA19625, HG00252, HG00536, HG01440, NA07347, NA18616, NA19904, NA07037, NA18534, HG01072, NA19081, NA12342, NA18523, NA19114, HG00705, NA07056, HG01342, HG00171, NA18612, HG00464, NA19093, NA20544, NA19401, NA20535, HG00736, NA19311, HG00449, NA11918, HG00707, NA19223, NA12340, NA18545, HG01389, NA20296, NA18948, HG01197, HG01051, HG00117, HG00189, HG00577, HG01492, HG01082, HG01174, HG01491, HG00139, HG00739, NA19144, NA12058, HG00334, HG01204, NA12776, NA19685, HG00404, HG01461, NA07051, HG00335, HG01134, NA19257, HG00366, NA19701, NA18965, NA18488, NA19474, HG00737, NA19084, NA18873, NA18950, NA18628, NA18949, HG00247, HG01133, HG00266, NA19762, HG00115, HG00154, HG01107, NA19062, HG00321, NA19914, NA20761, HG00556, HG00242, NA18912, HG00179, NA19059, NA20515, NA18536, NA18622, HG00180, HG00259, NA18563, NA19443, HG01048, HG00372, HG00692, HG01047, NA18636, NA19396, NA20754, NA19088, HG00330, NA18638, NA19429, HG00150, NA18609, NA20765, HG00258, NA11843, HG01136, NA11894, NA19075, NA11995, HG00637, NA18982, HG00243, HG00403, NA19457, NA18634, HG00237, NA20341, HG00133, HG00662, HG00114, NA12751, NA19190, HG00373, NA19247, HG00159, HG01111, NA19080, HG00108, NA18537, HG01465, NA19172, HG00233, NA12892, NA18572, NA20536, HG01066, NA19375, NA20760, HG00732, NA12778, NA12348, NA18486, NA12275, NA18510, HG00560, HG01073, NA18558, HG00273, HG00282, HG00232, HG01069, HG00249, NA11892, NA18487, HG00116, HG00103, HG00740, NA18613, NA20542, NA20766, NA18910, NA19711, NA18985, NA18945, NA18543, NA18582, NA19921, HG00595, HG01095, HG00443, NA18909, NA06984, HG00663, HG00262, NA18560, NA20289, NA19818, NA19099, NA20509, HG01390, NA12878, NA11992, NA19770, NA19327, NA19399, NA20812, HG00142, NA19470, HG01125, NA11829, NA19130, HG00320, HG01522, NA19079, NA06994, HG00143, NA20772, NA19092, NA19661, NA19456, NA07000, NA12775, NA19466, HG01067, HG01354, NA18553, HG00327, HG01198

Known Genes

DGCR2

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)

esv2678705

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	217
Observed Complex	0
Frequency	n/a