Variant Details

Variant: esv2758867

Internal ID

9634326

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:56712636..56861315	hg38	UCSC Ensembl
Inner	chrX:56739069..56887748	hg19	UCSC Ensembl
Inner	chrX:56755794..56904473	hg18	UCSC Ensembl
Inner	chrX:56622090..56770769	hg17	UCSC Ensembl

Cytoband

Xp11.1

Allele length

Assembly	Allele length
hg38	148680
hg19	148680
hg18	148680
hg17	148680

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758569

Samples

NA19203, NA11829, NA18561, NA19145, NA18603, NA07029, NA12801, NA12248, NA18959, NA10857, NA19098, NA12155, NA18967, NA18563, NA19192, NA18944, NA18940, NA12812, NA10835, NA19119, NA18635, NA18860, NA18558, NA18960, NA06993, NA19130, NA12005, NA18970, NA11994, NA19207, NA19128, NA18966, NA18990, NA19239, NA19200, NA19007, NA18605, NA12760, NA12752, NA19120, NA19194, NA12003, NA18572, NA11839, NA10838, NA18856, NA18853, NA12264, NA12144, NA19160, NA10856, NA18945, NA19012, NA18974, NA12043, NA18953, NA18914, NA18632, NA18961, NA18863, NA18501, NA06994, NA18971, NA19223, NA19211, NA18521, NA18506, NA18872, NA18623, NA12154, NA07034, NA18622, NA19153, NA18965

Known Genes

LOC550643, UQCRBP1

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)

esv2758867

Frequency

Sample Size	270
Observed Gain	60
Observed Loss	14
Observed Complex	0
Frequency	n/a