Variant Details

Variant: esv2667140

Internal ID

9586559

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr21:38491963..38492068	hg38	UCSC Ensembl
	chr21:39863887..39863992	hg19	UCSC Ensembl

Cytoband

21q22.2

Allele length

Assembly	Allele length
hg38	106
hg19	106

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5408314, essv6168782, essv5938611, essv5844448, essv5808241, essv6336079, essv6003752, essv6122590, essv6574387, essv6193825, essv6045854, essv5531692, essv5430189, essv6586357, essv6535376, essv6592012, essv6589725, essv6548787, essv6474297, essv5650729, essv5514957, essv6202007, essv6274178, essv6098436, essv5607359, essv6301167, essv5883769, essv5877618, essv5765688, essv6389522, essv5701245, essv6140233, essv5514592, essv5825703, essv5645331, essv6319168, essv6277847, essv5656341, essv5813238, essv6595473, essv5681669, essv6096745, essv5560635, essv6392614, essv6323664, essv5987124, essv5789470, essv5682457, essv6382554, essv5684733, essv5399558, essv5674925, essv6478776, essv6269913, essv6367991, essv5687229, essv6494653, essv5769502, essv5857989, essv5849995, essv5600768, essv6239514, essv5677315, essv5898044, essv6267163, essv5662890, essv6479336, essv6543788, essv5621447, essv6265738, essv6363996, essv6258035, essv6216100, essv5956450, essv5501278, essv6373679, essv5454987, essv6118156, essv5881243, essv5417335, essv6291643, essv6017173, essv6363169, essv6172033, essv5867214, essv5424268, essv6411560, essv5981565, essv6101984, essv6315131, essv5797793, essv6386360, essv5957277, essv5870259, essv6310255, essv5974828, essv6366442, essv6029556, essv5553163, essv6331717, essv5487857, essv5503292, essv6418767, essv5726048, essv6185852, essv5421896, essv6393402, essv5935190, essv5888262, essv5520623, essv5865289, essv6328732, essv6413081, essv6432356, essv6040561, essv6251866, essv6189838, essv5711863, essv6554795, essv5489172, essv6161039, essv6125930, essv5414188, essv6183106, essv6130799, essv5891900, essv5533330, essv5465812, essv6173627, essv5684122, essv6529439, essv5483058, essv6275830, essv6310875, essv5944197, essv5635786, essv6526464, essv5440225, essv5545653, essv6025652, essv5841560, essv6035674, essv6083192, essv5798815, essv6093192, essv6580110, essv6181257, essv6493789, essv5945051, essv5834593, essv6048724, essv6119395, essv5550551, essv5929391, essv5773622, essv5618347, essv6334893, essv5636081, essv6544487, essv6027527, essv5983668, essv5741493, essv6223875, essv5869889, essv5942239, essv6413713, essv6454887, essv5691815, essv5850212, essv6434808, essv5916569, essv5512508, essv6190519, essv5524677, essv6190478, essv5740209, essv5940140, essv5971617, essv6448348, essv6499569, essv5970660, essv6159518, essv5703921, essv6530124, essv5944560

Samples

HG01060, HG01441, HG01173, NA20766, NA18947, HG00249, NA20508, NA19664, NA11829, NA12273, HG01188, HG00257, HG01066, NA20816, NA20752, NA20512, NA18603, HG00318, NA12751, HG00153, HG00115, NA18616, NA20517, HG01051, NA19920, HG00261, NA12750, NA12399, NA12155, HG00327, HG00663, NA20814, NA20537, NA19446, HG01350, NA18940, NA18550, HG01070, HG00251, HG01351, HG01177, HG01488, NA20586, NA20756, NA12891, HG00330, HG01492, NA18960, NA11992, HG00346, NA18582, HG01354, NA18571, NA19054, NA19782, NA18949, NA20541, NA12761, NA11930, HG00281, HG00139, NA20759, HG00277, NA12005, HG01069, NA19651, HG01080, HG00335, HG00148, NA12156, HG01170, HG00262, NA11932, HG00232, NA12044, NA20811, HG00338, NA18557, HG00253, NA20515, NA19789, NA19921, HG00264, NA20753, NA12748, HG00260, NA20818, HG01136, HG00154, NA20787, NA19670, HG00145, HG01384, HG00557, NA12342, NA12878, HG00732, NA19663, NA19982, NA19788, HG00275, NA20506, NA18579, HG01149, HG00239, NA19776, NA12234, NA18537, HG01390, NA19654, NA18566, HG00324, HG00284, HG00273, NA19774, NA19000, HG00250, NA19655, HG00479, NA12829, NA11893, HG00331, NA18499, NA11894, NA12249, NA12892, NA18532, HG00117, HG01101, HG00321, HG00276, HG00152, NA19682, NA12144, NA12546, NA19012, NA19401, NA19652, HG00254, HG00336, HG00285, NA18952, HG00565, NA20815, HG00375, HG00136, NA19435, HG00278, NA20520, NA20785, HG00473, HG00237, NA20544, HG01137, HG00319, NA19360, NA07037, HG00256, NA12763, HG00418, NA12347, NA06986, HG00125, NA19078, HG00672, HG00111, HG00513, NA20582, HG00342, NA19716, HG01055, HG00123, NA18609, HG00310, HG00186, NA20807, HG00131, HG00343, NA18983, HG00252, NA11892, NA12006, HG01191, NA18622, NA20772

Known Genes

ERG

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2667140

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	185
Observed Complex	0
Frequency	n/a