Variant Details

Variant: esv2421495

Internal ID

7905257

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:62624950..62626520	hg38	UCSC Ensembl
Inner	chr3:62610625..62612195	hg19	UCSC Ensembl
Inner	chr3:62585665..62587235	hg18	UCSC Ensembl

Cytoband

3p14.2

Allele length

Assembly	Allele length
hg38	1571
hg19	1571
hg18	1571

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5086488, essv5112943, essv5096608, essv5103144, essv5132662, essv5076105, essv5116922, essv5052864, essv5024094, essv5109087, essv5088593, essv5097658, essv5089212, essv5097750, essv5057520, essv5089305, essv5123206, essv5161178, essv5104094, essv5119943, essv5004124, essv5026423, essv5131508, essv5084197, essv5109009, essv5109836, essv5159017, essv5093108, essv5099366, essv5158160, essv5018482, essv5083257, essv5056698, essv5074852, essv5123617, essv5015867, essv5122024, essv5031534, essv5079029, essv5049538, essv5052342, essv5058905, essv5106133, essv5119369, essv5096880, essv5021995, essv5123908, essv5112781, essv5031951, essv5028925, essv5016094, essv5086308, essv5102699, essv5063543, essv5133769, essv5077711, essv5155740, essv5143997, essv5081254, essv5003547, essv5105507, essv5093332, essv5067302, essv5129398, essv5004196, essv5002506, essv5130270, essv5091348, essv5092713, essv5064172, essv5041961, essv5116087, essv5032428, essv5058565, essv5017181, essv5112381, essv5083179, essv5038367, essv5007659, essv5140440, essv5158909, essv5091073, essv5088034, essv5061732, essv5068640, essv5107120

Samples

NA18497, NA21636, NA18924, NA19204, NA18508, NA19399, NA19914, NA21519, NA21436, NA18507, NA20294, NA21717, NA18925, NA20332, NA21741, NA21408, NA21635, NA21776, NA21739, NA19107, NA19171, NA21378, NA19916, NA19352, NA19457, NA21353, NA21381, NA21510, NA21574, NA19041, NA19383, NA21529, NA20349, NA19215, NA19915, NA19159, NA19239, NA19708, NA19200, NA19437, NA21575, NA19161, NA18485, NA19202, NA19150, NA19181, NA18499, NA21678, NA21578, NA19225, NA21424, NA19918, NA18909, NA19147, NA19473, NA21311, NA21425, NA21718, NA19439, NA19470, NA20281, NA21619, NA18911, NA20341, NA20333, NA19376, NA19143, NA18484, NA19109, NA19248, NA19178, NA18509, NA19185, NA18506, NA21486, NA21418, NA19213, NA19224, NA18488, NA19148, NA21487, NA21440, NA21491, NA19214, NA18487, NA20350

Known Genes

CADPS

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)

esv2421495

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	86
Observed Complex	0
Frequency	n/a