Variant Details

Variant: esv2421642

Internal ID

7905404

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:43403599..43417675	hg38	UCSC Ensembl
Inner	chr21:44823479..44837555	hg19	UCSC Ensembl
Inner	chr21:43647907..43661983	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	14077
hg19	14077
hg18	14077

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5045479, essv5031033, essv5143617, essv5155953, essv5038362, essv5046106, essv5029287, essv5097584, essv5141706, essv5157057, essv5099151, essv5048485, essv5123387, essv5014663, essv5097461, essv5131490, essv5077291, essv5048738, essv5090536, essv5092271, essv5090248, essv5072202, essv5028557, essv5073412, essv5072933, essv5140097, essv5102356, essv5143494, essv5005897, essv5146766, essv5008959, essv5044352, essv5043897, essv5068163, essv5044003, essv5033979, essv5045529, essv5091567, essv5010159, essv5093102, essv5116549, essv5143299, essv5120644, essv5036225, essv5143467, essv5042995, essv5160027

Samples

NA10865, NA12249, NA21438, NA19031, NA20890, NA12286, NA20866, NA19819, NA19404, NA21529, NA19310, NA20796, NA20902, NA21415, NA19379, NA21357, NA11891, NA20521, NA21528, NA21400, NA12056, NA21363, NA21587, NA20765, NA21738, NA19679, NA21451, NA21826, NA19380, NA19372, NA19680, NA12057, NA21485, NA21364, NA19382, NA21401, NA19035, NA21510, NA21733, NA10835, NA19431, NA21519, NA21620, NA11992, NA19381, NA21391, NA21617

Known Genes

SIK1

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)

esv2421642

Frequency

Sample Size	1184
Observed Gain	47
Observed Loss	0
Observed Complex	0
Frequency	n/a