Variant Details

Variant: essv25107

Internal ID

9623789

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:200588639..200627135	hg38	UCSC Ensembl
Outer	chr1:200538382..200627849	hg38	UCSC Ensembl
Inner	chr1:200557767..200596263	hg19	UCSC Ensembl
Outer	chr1:200507510..200596977	hg19	UCSC Ensembl
Inner	chr1:198824390..198862886	hg18	UCSC Ensembl
Outer	chr1:198774133..198863600	hg18	UCSC Ensembl
Inner	chr1:197289424..197327920	hg17	UCSC Ensembl
Outer	chr1:197239167..197328634	hg17	UCSC Ensembl

Cytoband

1q32.1

Allele length

Assembly	Allele length
hg38	89468
hg19	89468
hg18	89468
hg17	89468

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2756881

Supporting Variants

Samples

NA12814

Known Genes

KIF14

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)

essv25107

Frequency

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