Variant Details

Variant: esv2421444

Internal ID

7905206

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:135123783..135126001	hg38	UCSC Ensembl
Inner	chr3:134842625..134844843	hg19	UCSC Ensembl
Inner	chr3:136325315..136327533	hg18	UCSC Ensembl

Cytoband

3q22.2

Allele length

Assembly	Allele length
hg38	2219
hg19	2219
hg18	2219

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5154181, essv5043574, essv5025025, essv5156454, essv5016652, essv5018449, essv5144818, essv5022383, essv5147323, essv5151315, essv5132091, essv5120292, essv5127902, essv5124537, essv5004913, essv5018315, essv5027130, essv5152133, essv5073579, essv5137734, essv5073538, essv5008019, essv5033348, essv5107253, essv5141992, essv5075298, essv5017908, essv5109083, essv5058953, essv5025195, essv5129311, essv5042721, essv5154553, essv5102378, essv5010226, essv5073562, essv5045246, essv5050617, essv5145245, essv5122031, essv5066109, essv5098788, essv5026894, essv5060753, essv5144168, essv5072173, essv5058392, essv5028320, essv5003345, essv5107959, essv5154710, essv5095962, essv5095016, essv5091234, essv5020788, essv5120156

Samples

NA19146, NA19127, NA19445, NA18861, NA19352, NA19904, NA21353, NA19222, NA18874, NA21307, NA19319, NA18516, NA19203, NA19150, NA19210, NA21295, NA21489, NA19151, NA19226, NA19428, NA19211, NA18934, NA19314, NA21686, NA19197, NA21301, NA21359, NA19256, NA19457, NA19324, NA19313, NA19377, NA18515, NA18875, NA21364, NA19221, NA20360, NA19258, NA21632, NA21344, NA21510, NA19394, NA19403, NA19431, NA19097, NA21620, NA21366, NA19916, NA19118, NA19095, NA19171, NA21719, NA18935, NA19381, NA21573, NA19439

Known Genes

EPHB1

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)

esv2421444

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a