Variant Details

Variant: esv2421353

Internal ID

8251801

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:108825322..108829252	hg38	UCSC Ensembl
Inner	chr1:109367944..109371874	hg19	UCSC Ensembl
Inner	chr1:109169467..109173397	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	3931
hg19	3931
hg18	3931

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5069040, essv5067223, essv5130854, essv5115093, essv5007791, essv5129649, essv5134372, essv5051151, essv5095799, essv5076144, essv5045867, essv5056413, essv5065722, essv5094933, essv5135718, essv5020970, essv5117907, essv5096612, essv5112457, essv5105605, essv5094962, essv5043964, essv5126334, essv5154353, essv5153003, essv5132222, essv5126251, essv5117030, essv5008516, essv5048979, essv5140942, essv5114431, essv5021695, essv5085169, essv5061750, essv5103096, essv5068783, essv5160489, essv5142201, essv5112275, essv5152397, essv5012106, essv5100902, essv5041592, essv5012533, essv5094406, essv5066928, essv5037530, essv5071228, essv5036854, essv5048262, essv5112507, essv5100325, essv5134466, essv5134063, essv5101247, essv5006830, essv5021635, essv5032395, essv5146529, essv5032714, essv5019909, essv5066389, essv5071026, essv5060213, essv5033962, essv5159865, essv5014428, essv5016478, essv5096435, essv5031138, essv5057130, essv5102638, essv5160836, essv5110533, essv5057298, essv5105960, essv5129397, essv5085376, essv5054891, essv5089797

Samples

NA18998, NA18157, NA17969, NA21683, NA21457, NA21115, NA18616, NA21693, NA18962, NA19068, NA18563, NA18944, NA18940, NA18995, NA18618, NA19653, NA19054, NA21103, NA21365, NA19079, NA21370, NA20910, NA20539, NA19651, NA18970, NA21453, NA19075, NA18748, NA21825, NA19725, NA18704, NA18951, NA21307, NA18674, NA19086, NA20862, NA18685, NA19081, NA18132, NA21617, NA10838, NA21366, NA18573, NA11919, NA19084, NA21086, NA18626, NA19656, NA19009, NA18555, NA18570, NA21309, NA21142, NA20765, NA19727, NA18978, NA18961, NA18559, NA20804, NA19010, NA20792, NA18643, NA19085, NA18610, NA21435, NA10843, NA18134, NA18987, NA21101, NA19726, NA18149, NA21455, NA19080, NA21312, NA19755, NA19044, NA18624, NA21440, NA19065, NA20898, NA20772

Known Genes

AKNAD1

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)

esv2421353

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	81
Observed Complex	0
Frequency	n/a