Variant Details

Variant: essv17385

Internal ID

9615208

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:34059177..34064165	hg38	UCSC Ensembl
Outer	chr12:34059177..34078005	hg38	UCSC Ensembl
Inner	chr12:34212112..34217100	hg19	UCSC Ensembl
Outer	chr12:34212112..34230940	hg19	UCSC Ensembl
Inner	chr12:34103379..34108367	hg18	UCSC Ensembl
Outer	chr12:34103379..34122207	hg18	UCSC Ensembl
Inner	chr12:34103379..34108367	hg17	UCSC Ensembl
Outer	chr12:34103379..34122207	hg17	UCSC Ensembl

Cytoband

12p11.1

Allele length

Assembly	Allele length
hg38	18829
hg19	18829
hg18	18829
hg17	18829

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757497

Supporting Variants

Samples

NA18855

Known Genes

Method

SNP array

Analysis

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)

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

essv17385

Frequency

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