Variant Details

Variant: esv2758860

Internal ID

9634319

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:9361050..9532380	hg38	UCSC Ensembl
Inner	chrX:9329090..9500420	hg19	UCSC Ensembl
Inner	chrX:9289090..9460420	hg18	UCSC Ensembl
Inner	chrX:9138826..9310156	hg17	UCSC Ensembl

Cytoband

Xp22.2

Allele length

Assembly	Allele length
hg38	171331
hg19	171331
hg18	171331
hg17	171331

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758563

Samples

NA19203, NA18621, NA18862, NA18561, NA18603, NA12801, NA19098, NA18967, NA18563, NA19192, NA19171, NA10846, NA12762, NA18966, NA19200, NA19007, NA11839, NA19154, NA12144, NA18974, NA18953, NA18952, NA12864, NA18501, NA19173, NA18854, NA18872, NA18620

Known Genes

TBL1X

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2758860

Frequency

Sample Size	270
Observed Gain	28
Observed Loss	0
Observed Complex	0
Frequency	n/a