Variant Details

Variant: esv2758939

Internal ID

9981084

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:72276713..72421130	hg38	UCSC Ensembl
Inner	chr1:72742396..72886813	hg19	UCSC Ensembl
Inner	chr1:72514984..72659401	hg18	UCSC Ensembl
Inner	chr1:72454417..72598834	hg17	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	144418
hg19	144418
hg18	144418
hg17	144418

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757734

Samples

NA12717, NA18621, NA12813, NA12812, NA18547, NA07048, NA18611, NA12005, NA18532, NA19099, NA12144, NA19132, NA19206, NA12864, NA12057, NA18854, NA19129

Known Genes

NEGR1

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)

esv2758939

Frequency

Sample Size	270
Observed Gain	3
Observed Loss	14
Observed Complex	0
Frequency	n/a