Variant Details

Variant: essv5327

Internal ID

9627004

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:113317372..113498039	hg38	UCSC Ensembl
Inner	chr2:114074949..114255616	hg19	UCSC Ensembl
Inner	chr2:113791419..113972086	hg18	UCSC Ensembl
Inner	chr2:113791179..113971846	hg17	UCSC Ensembl

Cytoband

2q13

Allele length

Assembly	Allele length
hg38	180668
hg19	180668
hg18	180668
hg17	180668

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757826, esv2757827

Supporting Variants

Samples

NA18563

Known Genes

CBWD2

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)

essv5327

Frequency

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