Variant Details

Variant: esv2421391

Internal ID

7905153

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:54031269..54042112	hg38	UCSC Ensembl
Inner	chr20:52647808..52658651	hg19	UCSC Ensembl
Inner	chr20:52081215..52092058	hg18	UCSC Ensembl

Cytoband

20q13.2

Allele length

Assembly	Allele length
hg38	10844
hg19	10844
hg18	10844

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5033165, essv5132415, essv5160615, essv5021232, essv5028080, essv5093329, essv5002494, essv5147736, essv5092877, essv5108469, essv5146817, essv5054683, essv5100730, essv5092349, essv5003039, essv5071528, essv5136815, essv5050454, essv5118962, essv5100919, essv5039386, essv5142790, essv5056307, essv5154138, essv5032937, essv5102062, essv5026112, essv5040492, essv5095975, essv5045435, essv5092049, essv5027659, essv5152072, essv5037214, essv5095254, essv5060596, essv5059542, essv5092681, essv5120338, essv5012485, essv5124483, essv5034363, essv5081127, essv5157926, essv5094479, essv5108311, essv5041666, essv5152508, essv5053754, essv5109118, essv5156505, essv5083096, essv5153247, essv5146295, essv5047361, essv5033168, essv5019463

Samples

NA20887, NA19796, NA21142, NA21441, NA20506, NA21317, NA21320, NA20531, NA21600, NA19186, NA06993, NA19685, NA19686, NA19682, NA19467, NA20770, NA20515, NA19662, NA12383, NA19828, NA20783, NA21523, NA21408, NA21115, NA19759, NA21525, NA21311, NA21316, NA12275, NA21379, NA21141, NA19705, NA12057, NA19704, NA20828, NA20815, NA20582, NA10836, NA21336, NA12891, NA20534, NA20756, NA19794, NA06991, NA21601, NA12375, NA19683, NA20850, NA19818, NA12878, NA21117, NA12248, NA20524, NA19185, NA19661, NA11917, NA21526

Known Genes

BCAS1

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)

esv2421391

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	57
Observed Complex	0
Frequency	n/a