Variant Details

Variant: esv2758148

Internal ID

9633607

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:11884049..12709792	hg38	UCSC Ensembl
Inner	chr8:11741558..12567301	hg19	UCSC Ensembl
Inner	chr8:11778967..12611672	hg18	UCSC Ensembl
Inner	chr8:11778967..12611672	hg17	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	825744
hg19	825744
hg18	832706
hg17	832706

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759593

Supporting Variants

essv14751, essv22997, essv10926, essv6649, essv16141, essv10282, essv15252, essv17749, essv13756, essv20760, essv23804, essv3001, essv11253, essv5588, essv6990, essv17474, essv10652, essv22164, essv14166, essv22919, essv9750, essv15113, essv5999, essv16078, essv15705, essv8748, essv23990, essv21069, essv11909, essv11122, essv8361, essv3088, essv24133, essv19449, essv7350, essv14465, essv9641, essv9896, essv19544

Samples

NA18502, NA19141, NA19204, NA18855, NA19145, NA19092, NA12146, NA10857, NA07357, NA18969, NA19201, NA18571, NA12762, NA19159, NA19209, NA10847, NA12760, NA10831, NA18529, NA18981, NA11840, NA18912, NA18570, NA18858, NA18608, NA19094, NA06991, NA12716, NA12864, NA18863, NA19140, NA19100, NA12763, NA18501, NA19211, NA18506, NA19129, NA18612, NA19153

Known Genes

DEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D

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)

esv2758148

Frequency

Sample Size	270
Observed Gain	31
Observed Loss	8
Observed Complex	0
Frequency	n/a