Variant Details

Variant: esv2758591

Internal ID

9634050

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:129563598..129830109	hg38	UCSC Ensembl
Inner	chrX:128697575..128964085	hg19	UCSC Ensembl
Inner	chrX:128525256..128791766	hg18	UCSC Ensembl
Inner	chrX:128423110..128689620	hg17	UCSC Ensembl

Cytoband

Xq25

Allele length

Assembly	Allele length
hg38	266512
hg19	266511
hg18	266511
hg17	266511

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758893

Supporting Variants

essv4736, essv16265, essv13433, essv17196, essv356, essv17467, essv1424, essv8622, essv3215, essv13537, essv9409, essv13885, essv8782, essv4868, essv11788, essv3154, essv4267, essv20258, essv19010, essv1241, essv20890, essv21714, essv16024, essv19785, essv24311, essv16949, essv16867, essv13731, essv10474, essv19535, essv20371, essv11087, essv13001, essv19997, essv23877, essv12522, essv18328

Samples

NA12814, NA18561, NA18603, NA19092, NA12801, NA18504, NA12248, NA19192, NA19171, NA18944, NA10835, NA18995, NA19119, NA07048, NA12005, NA11994, NA19207, NA19239, NA19161, NA18859, NA18515, NA19205, NA19208, NA10830, NA12144, NA19160, NA10856, NA19012, NA18974, NA12043, NA12864, NA19144, NA18501, NA18971, NA19211, NA18854, NA18620

Known Genes

APLN, OCRL, SASH3, XPNPEP2, ZDHHC9

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)

esv2758591

Frequency

Sample Size	270
Observed Gain	18
Observed Loss	19
Observed Complex	0
Frequency	n/a