Variant Details

Variant: esv2422090

Internal ID

8252538

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:50827676..50829982	hg38	UCSC Ensembl
Inner	chr19:51330932..51333238	hg19	UCSC Ensembl
Inner	chr19:56022744..56025050	hg18	UCSC Ensembl

Cytoband

19q13.33

Allele length

Assembly	Allele length
hg38	2307
hg19	2307
hg18	2307

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5081200, essv5054365, essv5042856, essv5148291, essv5075633, essv5046281, essv5090923, essv5013399, essv5131561, essv5108808, essv5069548, essv5069697, essv5007171, essv5126435, essv5102529, essv5068479, essv5018564, essv5110688, essv5006250, essv5030924, essv5128806, essv5008397, essv5134283, essv5130291, essv5075231, essv5011358, essv5124834, essv5059268, essv5093494, essv5066885, essv5083651, essv5127839, essv5095684, essv5065779, essv5031658, essv5022988, essv5135508, essv5103037

Samples

NA21111, NA19684, NA12832, NA12400, NA19374, NA19373, NA18995, NA19678, NA19307, NA19686, NA20819, NA20775, NA19915, NA20515, NA21494, NA19657, NA21682, NA12343, NA12342, NA19327, NA19663, NA12877, NA20519, NA12386, NA21583, NA19659, NA19680, NA19652, NA12272, NA20778, NA21390, NA20803, NA20510, NA20807, NA20826, NA19316, NA12890, NA21333

Known Genes

KLK15

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)

esv2422090

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	38
Observed Complex	0
Frequency	n/a