Variant Details

Variant: esv2758594

Internal ID

9634053

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:140904098..141745811	hg38	UCSC Ensembl
Inner	chrX:139986263..140834012	hg19	UCSC Ensembl
Inner	chrX:139813929..140661678	hg18	UCSC Ensembl
Inner	chrX:139711783..140559532	hg17	UCSC Ensembl

Cytoband

Xq27.1

Allele length

Assembly	Allele length
hg38	841714
hg19	847750
hg18	847750
hg17	847750

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758896

Supporting Variants

essv23023, essv9625, essv17548, essv11659, essv2281, essv9595, essv8927, essv14274, essv11556, essv4281, essv23944, essv17320, essv9649, essv23985, essv17112, essv16296, essv18933, essv21710, essv9402, essv17451, essv24703, essv17519, essv11457, essv12456, essv16817, essv17738, essv10862, essv18725, essv11109, essv13924, essv13513, essv9392, essv16719, essv16972, essv11158, essv21813, essv16080, essv12832, essv17972, essv9201, essv10132, essv9139, essv12263, essv19572, essv9256, essv9770, essv8310, essv21663, essv18285, essv16501, essv16215, essv24739, essv8924, essv23996, essv18296, essv16645, essv12224, essv2325

Samples

NA19141, NA11829, NA12814, NA18603, NA12248, NA19171, NA18940, NA12812, NA10846, NA18860, NA12762, NA19130, NA12005, NA19207, NA19128, NA18966, NA19200, NA19210, NA19120, NA19194, NA12003, NA12872, NA19161, NA18871, NA19103, NA11839, NA19208, NA19142, NA18856, NA19154, NA18857, NA18853, NA19101, NA19160, NA12043, NA12716, NA12864, NA18863, NA18913, NA19144, NA12874, NA18501, NA19173, NA19211, NA18854, NA18872

Known Genes

LDOC1, MIR320D2, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXB2, SPANXC, SPANXD, SPANXE, SPANXF1

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)

esv2758594

Frequency

Sample Size	270
Observed Gain	46
Observed Loss	1
Observed Complex	0
Frequency	n/a