Variant Details

Variant: esv2421337

Internal ID

7905099

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:15544498..15555938	hg38	UCSC Ensembl
Inner	chr8:15402007..15413447	hg19	UCSC Ensembl
Inner	chr8:15446378..15457818	hg18	UCSC Ensembl

Cytoband

8p22

Allele length

Assembly	Allele length
hg38	11441
hg19	11441
hg18	11441

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5103557, essv5131241, essv5109743, essv5091390, essv5147582, essv5157169, essv5116945, essv5092955, essv5120816, essv5085601, essv5041741, essv5088686, essv5128899, essv5130003, essv5120242, essv5146727, essv5049151, essv5146632, essv5135362, essv5158799, essv5031830, essv5019090, essv5075565, essv5141308, essv5130267, essv5074654, essv5133837, essv5146435, essv5122975, essv5109187, essv5102129, essv5031756, essv5143688, essv5118408, essv5027756, essv5152316, essv5103992, essv5056108, essv5083565, essv5014868, essv5139005, essv5063371, essv5044375, essv5146393, essv5058873, essv5002677, essv5014446, essv5028970, essv5061444, essv5039257, essv5037307, essv5052451, essv5004885, essv5143200, essv5153844, essv5023553, essv5059151, essv5060955, essv5071251, essv5091542, essv5010462, essv5147451, essv5102791, essv5067782

Samples

NA20761, NA21636, NA18157, NA21477, NA21476, NA21399, NA21301, NA21635, NA18633, NA18962, NA12399, NA20806, NA19076, NA21405, NA18101, NA21401, NA18161, NA21402, NA12156, NA21344, NA21320, NA21318, NA10863, NA19086, NA18109, NA18151, NA18637, NA18579, NA18534, NA21617, NA21438, NA12234, NA19064, NA18566, NA21308, NA20901, NA12386, NA21112, NA11840, NA21678, NA21578, NA18532, NA19656, NA12264, NA19059, NA12766, NA20828, NA21302, NA18608, NA20799, NA12775, NA21576, NA21740, NA07037, NA21094, NA21379, NA21404, NA12830, NA18149, NA18957, NA18624, NA18623, NA19065, NA18620

Known Genes

TUSC3

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)

esv2421337

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	64
Observed Complex	0
Frequency	n/a