Variant Details

Variant: esv2759008

Internal ID

9634467

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:237778494..238604802	hg38	UCSC Ensembl
Inner	chr1:237941794..238768102	hg19	UCSC Ensembl
Inner	chr1:236008417..236834725	hg18	UCSC Ensembl
Inner	chr1:234267835..235094143	hg17	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	826309
hg19	826309
hg18	826309
hg17	826309

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757777, esv2756890

Samples

NA18633

Known Genes

LINC01139, LOC100130331, RYR2, ZP4

Method

BAC aCGH
SNP array

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).
The algorithm used to call CNVs using the 500K EA platform was developed to accurately define CNV regions using a large set of reference samples and is described in detail in a separate publication (Komura 2006). The algorithm contains three major parts: 1) Intensity pre-processing using an improved version of Genomic Imbalance Map (GIM) (Ishikawa et al. 2005), including probe selection, noise reduction, normalization, and intensity ratio adjustment based on affinity differences between alleles of a SNP, 2) CNV extraction, which identifies CNVs from all pair-wise comparisons using a modified SW-ARRAY, and 3) A copy number inference step which utilizes signal ratios and SNP information to more precisely define CNV boundaries and the copy number within each region.

Platform

Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP)
Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2759008

Frequency

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