Variant Details

Variant: esv2421365

Internal ID

8251813

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:42694649..42707404	hg38	UCSC Ensembl
Inner	chr4:42696666..42709421	hg19	UCSC Ensembl
Inner	chr4:42391423..42404178	hg18	UCSC Ensembl

Cytoband

4p13

Allele length

Assembly	Allele length
hg38	12756
hg19	12756
hg18	12756

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5134694, essv5078648, essv5063896, essv5093099, essv5103652, essv5036809, essv5098450, essv5038772, essv5087416, essv5072343, essv5017017, essv5142191, essv5102903, essv5115844, essv5099107, essv5141625, essv5121474, essv5157645, essv5114786, essv5135659, essv5159916, essv5106390, essv5079703, essv5124722, essv5034609, essv5057748, essv5040589, essv5138339, essv5039553, essv5099717, essv5142450, essv5047760, essv5046826, essv5083184, essv5074511, essv5051497, essv5006869, essv5070089, essv5044516, essv5004349, essv5039151, essv5036023, essv5056184, essv5130872, essv5138757, essv5049197, essv5044963, essv5149340, essv5022432, essv5131289, essv5027762, essv5113907, essv5085608, essv5079021, essv5144558, essv5021669, essv5084781, essv5133911, essv5007458, essv5150929, essv5032826, essv5014580, essv5021651, essv5111527, essv5155455, essv5139759, essv5070570, essv5123159, essv5120877, essv5099095, essv5073417

Samples

NA19222, NA21683, NA21423, NA21383, NA11829, NA21436, NA21352, NA20531, NA18486, NA21489, NA21457, NA21723, NA19098, NA12399, NA21371, NA20796, NA19382, NA21526, NA19119, NA20317, NA20769, NA19197, NA21381, NA21391, NA21447, NA21382, NA21650, NA21529, NA20349, NA21716, NA19456, NA19445, NA19027, NA21307, NA21414, NA21587, NA20297, NA19403, NA12003, NA18529, NA18485, NA10838, NA20337, NA21826, NA18857, NA21583, NA19035, NA21302, NA20319, NA19094, NA19321, NA21527, NA21336, NA21425, NA21368, NA21718, NA19360, NA20888, NA18484, NA19438, NA19779, NA19093, NA21722, NA19780, NA21303, NA21490, NA21491, NA21421, NA20277, NA19429, NA18487

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)

esv2421365

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	71
Observed Complex	0
Frequency	n/a