Variant Details

Variant: esv2759922

Internal ID

9635381

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:131238746..131784349	hg38	UCSC Ensembl
Inner	chr12:131723291..132268894	hg19	UCSC Ensembl
Inner	chr12:130289244..130834847	hg18	UCSC Ensembl
Inner	chr12:130248171..130935124	hg17	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	545604
hg19	545604
hg18	545604
hg17	686954

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758321, esv2757520

Samples

NA19204, NA18561, NA07019, NA18975, NA07022, NA19205, NA18981, NA18537, NA18632

Known Genes

LOC338797, SFSWAP

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)

esv2759922

Frequency

Sample Size	270
Observed Gain	2
Observed Loss	7
Observed Complex	0
Frequency	n/a