Variant Details

Variant: esv2421450

Internal ID

7905212

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:157808285..157810222	hg38	UCSC Ensembl
Inner	chr4:158729437..158731374	hg19	UCSC Ensembl
Inner	chr4:158948887..158950824	hg18	UCSC Ensembl

Cytoband

4q32.1

Allele length

Assembly	Allele length
hg38	1938
hg19	1938
hg18	1938

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5068861, essv5008325, essv5067309, essv5059350, essv5102314, essv5112724, essv5121315, essv5095486, essv5019200, essv5052154, essv5102958, essv5113040, essv5087519, essv5085804, essv5110011, essv5155097, essv5106458, essv5052148, essv5137819, essv5061651, essv5082425, essv5065367, essv5141708, essv5050880, essv5087196, essv5072414, essv5130580, essv5156145, essv5041853, essv5110074, essv5039131, essv5082173, essv5124785, essv5076693, essv5018507, essv5154979, essv5145891, essv5012038, essv5028991, essv5035682, essv5098131, essv5089359, essv5131970

Samples

NA19222, NA19703, NA19204, NA19359, NA21367, NA21723, NA18504, NA19377, NA21693, NA21434, NA21378, NA19201, NA19448, NA19352, NA19197, NA20336, NA19383, NA20349, NA19215, NA19226, NA21689, NA20127, NA20335, NA19247, NA19202, NA20337, NA19469, NA19318, NA21573, NA19375, NA18517, NA19712, NA21368, NA19428, NA20357, NA19223, NA20334, NA19213, NA20128, NA18505, NA19044, NA21421, NA20350

Known Genes

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)

esv2421450

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	43
Observed Complex	0
Frequency	n/a