Variant Details

Variant: essv19852

Internal ID

9617949

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:133456451..133560264	hg38	UCSC Ensembl
Outer	chr10:133392850..133562190	hg38	UCSC Ensembl
Inner	chr10:135269955..135373768	hg19	UCSC Ensembl
Outer	chr10:135206354..135375694	hg19	UCSC Ensembl
Inner	chr10:135119945..135223758	hg18	UCSC Ensembl
Outer	chr10:135056344..135225684	hg18	UCSC Ensembl
Inner	chr10:135158836..135262649	hg17	UCSC Ensembl
Outer	chr10:135095235..135264575	hg17	UCSC Ensembl

Cytoband

10q26.3

Allele length

Assembly	Allele length
hg38	169341
hg19	169341
hg18	169341
hg17	169341

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757415

Supporting Variants

Samples

NA12234

Known Genes

CYP2E1, MTG1, SCART1, SPRN, SYCE1

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)

essv19852

Frequency

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