Variant Details

Variant: dgv2330e212

Internal ID

22785257

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chrX:89412180..89429011	hg38	UCSC Ensembl
	chrX:88667179..88684010	hg19	UCSC Ensembl

Cytoband

Xq21.31

Allele length

Assembly	Allele length
hg38	16832
hg19	16832

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv3576970, esv3576975

Samples

400287BP, 401706BJ, 401420PJ, 400880TM, 400534ME, 401640WJ, 401400NP, 400889CM, 401235IA, 400068PW, 401427CB, 401491BB, 400730SH, 401733CG, 401093VL, 401674DD, 400453LN, 400493KH, 400528LR, 401842BJ, 400066MA, 400503HD, 400526DR, 402012RR, 401566DD, 401838EN, 400650RM, 401831TW, 401303FM, 402029KJ, 401997HB, 401393JW, 400502GS, 400109LJ, 401739BJ, 400060MC, 400282RA, 401505WI, 401347DH, 400007RG, 401655DC, 400236DB, 401870FB, 401499JR, 401274PA, 401950MD, 401494PD, 401853WR, 401357MH, 401694SG, 401804FG, 401822TL, 401348RB, 400914ER, 400543CK, 401475MK, 401879HJ, 400265LK, 401813DN, 400123WN, 400686BM, 401952UH, 401812HG, 401039PA, 401587RC, 400135DR, 401514BA, 401410BJ, 401391PJ, 400483DP, 401365DJ, 401844ZD, 400376SJ, 401025SM, 401786WD, 401571SD, 401858TP, 401265CB, 400769SL, 400328LM, 400996MC, 401166WJ, 401797LS, 401829FJ, 401912HD, 400833BB, 401153HS, 400152MR, 401490TL

Known Genes

Method

SNP array

Analysis

We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.

Platform

Affymetrix CytoScan HD 2.7M array

Comments

Reference

Uddin_et_al_2014

Pubmed ID

25503493

Accession Number(s)

dgv2330e212

Frequency

Sample Size	873
Observed Gain	89
Observed Loss	0
Observed Complex	0
Frequency	n/a