Variant Details

Variant: esv2421956

Internal ID

7905718

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:188703229..188714602	hg38	UCSC Ensembl
Inner	chr2:189567956..189579329	hg19	UCSC Ensembl
Inner	chr2:189276201..189287574	hg18	UCSC Ensembl

Cytoband

2q32.2

Allele length

Assembly	Allele length
hg38	11374
hg19	11374
hg18	11374

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5157372, essv5056488, essv5112704, essv5157775, essv5041304, essv5004915, essv5071126, essv5063239, essv5154699, essv5143651, essv5084022, essv5101961, essv5045317, essv5123711, essv5030116, essv5145084, essv5072316, essv5027031, essv5004300, essv5142344, essv5117024, essv5062423, essv5058482, essv5105134, essv5092056, essv5070007, essv5072225, essv5024483, essv5012272, essv5157361, essv5142356, essv5135999, essv5050653, essv5022573, essv5094727, essv5033215, essv5132901, essv5015794, essv5148902, essv5110256, essv5147283, essv5142360, essv5114213, essv5137801, essv5107487, essv5003498, essv5037462, essv5093862, essv5140027, essv5046363, essv5062326, essv5097409, essv5069232, essv5042068, essv5075029, essv5079719, essv5022189, essv5110889, essv5023780, essv5142016, essv5136156, essv5045852, essv5145254, essv5009219, essv5088863, essv5013730, essv5140342, essv5010397, essv5016765, essv5135295, essv5107088, essv5008326, essv5095049, essv5097666, essv5050814, essv5007347, essv5022505, essv5018410

Samples

NA20284, NA19028, NA19700, NA18924, NA18862, NA20292, NA19704, NA21352, NA19359, NA20294, NA18504, NA21301, NA19190, NA19098, NA19314, NA21371, NA19319, NA18489, NA19457, NA19313, NA20291, NA19041, NA19215, NA19915, NA19371, NA19385, NA19172, NA19702, NA19226, NA21825, NA19036, NA19209, NA20335, NA19027, NA20129, NA19908, NA19210, NA21414, NA20297, NA18503, NA21617, NA21438, NA20344, NA21308, NA19151, NA21826, NA20538, NA19113, NA18912, NA18857, NA19099, NA19225, NA19318, NA19095, NA19625, NA19436, NA19115, NA19149, NA18863, NA19712, NA19434, NA19444, NA19919, NA19439, NA19324, NA20341, NA19328, NA21379, NA20348, NA19211, NA20289, NA19711, NA20345, NA19224, NA19044, NA20277, NA19429, NA19214

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)

esv2421956

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	78
Observed Complex	0
Frequency	n/a