Variant Details

Variant: essv20750

Internal ID

9954891

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:208273014..208281834	hg38	UCSC Ensembl
Outer	chr1:208270177..208323773	hg38	UCSC Ensembl
Inner	chr1:208446359..208455179	hg19	UCSC Ensembl
Outer	chr1:208443522..208497118	hg19	UCSC Ensembl
Inner	chr1:206512982..206521802	hg18	UCSC Ensembl
Outer	chr1:206510145..206563741	hg18	UCSC Ensembl
Inner	chr1:204834754..204843574	hg17	UCSC Ensembl
Outer	chr1:204831917..204885513	hg17	UCSC Ensembl

Cytoband

1q32.2

Allele length

Assembly	Allele length
hg38	53597
hg19	53597
hg18	53597
hg17	53597

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2756882

Supporting Variants

Samples

NA07357

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)

essv20750

Frequency

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