Variant Details

Variant: essv12684

Internal ID

9609985

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:75462279..75785697	hg38	UCSC Ensembl
Inner	chr2:75689405..76012823	hg19	UCSC Ensembl
Inner	chr2:75542913..75866331	hg18	UCSC Ensembl
Inner	chr2:75601060..75924478	hg17	UCSC Ensembl

Cytoband

2p12

Allele length

Assembly	Allele length
hg38	323419
hg19	323419
hg18	323419
hg17	323419

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757808

Supporting Variants

Samples

NA18500

Known Genes

EVA1A, GCFC2, MRPL19

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)

essv12684

Frequency

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