Variant Details

Variant: esv2422105

Internal ID

8252553

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:21994022..22004046	hg38	UCSC Ensembl
Inner	chr1:22320515..22330539	hg19	UCSC Ensembl
Inner	chr1:22193102..22203126	hg18	UCSC Ensembl

Cytoband

1p36.12

Allele length

Assembly	Allele length
hg38	10025
hg19	10025
hg18	10025

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5109676, essv5101041, essv5039080, essv5069364, essv5082060, essv5107178, essv5093683, essv5153959, essv5106182, essv5004304, essv5025821, essv5035309, essv5126066, essv5052611, essv5092401, essv5073331, essv5005963, essv5079181, essv5051602, essv5099187, essv5060599, essv5089636, essv5052234, essv5130100, essv5012703, essv5026382, essv5155528, essv5087547, essv5069649, essv5160488, essv5127647, essv5048433, essv5152666, essv5089331, essv5139034, essv5068701, essv5094720, essv5114201, essv5048896, essv5072556, essv5030225, essv5098002, essv5122800, essv5090968, essv5013849, essv5139157, essv5122426, essv5027369, essv5131129, essv5049931, essv5079332, essv5079757, essv5160939, essv5012250, essv5048403, essv5098330, essv5060991, essv5118566, essv5004960, essv5013797, essv5092266, essv5127796, essv5092467, essv5010298, essv5013711, essv5047066, essv5007855, essv5137057, essv5117747, essv5135997, essv5021959, essv5029182, essv5087741, essv5097180, essv5039091, essv5112361, essv5140524, essv5040804, essv5048628, essv5144788, essv5062103, essv5136010, essv5086958, essv5057648, essv5040269, essv5151805, essv5051720, essv5067557, essv5160782, essv5057717, essv5010859, essv5031926, essv5099755, essv5122038, essv5009703, essv5066006, essv5156755, essv5120929, essv5150276, essv5014076, essv5082807, essv5008724, essv5116678, essv5047107

Samples

NA20284, NA19258, NA19186, NA20891, NA19397, NA19249, NA18647, NA18861, NA21597, NA18979, NA18545, NA21717, NA18925, NA18616, NA20806, NA21776, NA21739, NA19446, NA19396, NA19171, NA19005, NA21378, NA19319, NA21520, NA19315, NA21473, NA20774, NA18923, NA20900, NA20540, NA19457, NA19313, NA18161, NA18498, NA20336, NA21613, NA18949, NA20910, NA18970, NA18977, NA19372, NA18617, NA19317, NA21107, NA21601, NA19445, NA20335, NA20818, NA19007, NA18645, NA21599, NA17998, NA17976, NA19070, NA19462, NA19086, NA18109, NA19184, NA18991, NA18529, NA20126, NA18910, NA18948, NA18981, NA17979, NA21295, NA19750, NA19154, NA20282, NA18135, NA10852, NA19257, NA19452, NA18570, NA18108, NA18146, NA21424, NA19440, NA19834, NA18863, NA12057, NA19473, NA18628, NA20909, NA21733, NA19334, NA21390, NA17970, NA20544, NA19467, NA19085, NA18615, NA18911, NA06986, NA20333, NA19248, NA20334, NA18994, NA21614, NA18972, NA20128, NA18147, NA19153, NA21333

Known Genes

CELA3A

Method

SNP array

Analysis

To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.

Platform

Not specified

Comments

Reference

Altshuler_et_al_2010

Pubmed ID

20811451

Accession Number(s)

esv2422105

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	104
Observed Complex	0
Frequency	n/a