Variant Details

Variant: essv19437

Internal ID

9617488

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:223747518..224081993	hg38	UCSC Ensembl
Inner	chr1:223935220..224269695	hg19	UCSC Ensembl
Inner	chr1:222001843..222336318	hg18	UCSC Ensembl
Inner	chr1:220241955..220576430	hg17	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	334476
hg19	334476
hg18	334476
hg17	334476

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757772

Supporting Variants

Samples

NA11840

Known Genes

CAPN2, TP53BP2

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)

essv19437

Frequency

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