Variant Details

Variant: esv2759978

Internal ID

9982123

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:32389274..32547236	hg38	UCSC Ensembl
Inner	chr14:32858480..33016442	hg19	UCSC Ensembl
Inner	chr14:31928231..32086193	hg18	UCSC Ensembl
Inner	chr14:31928231..32086193	hg17	UCSC Ensembl

Cytoband

14q12

Allele length

Assembly	Allele length
hg38	157963
hg19	157963
hg18	157963
hg17	157963

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758352

Samples

NA07048, NA19128, NA19142, NA12144

Known Genes

AKAP6

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)

esv2759978

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	3
Observed Complex	0
Frequency	n/a