Variant Details

Variant: essv15940

Internal ID

9962426

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:165453068..165454639	hg38	UCSC Ensembl
Outer	chr1:165453068..165456299	hg38	UCSC Ensembl
Inner	chr1:165422305..165423876	hg19	UCSC Ensembl
Outer	chr1:165422305..165425536	hg19	UCSC Ensembl
Inner	chr1:163688929..163690500	hg18	UCSC Ensembl
Outer	chr1:163688929..163692160	hg18	UCSC Ensembl
Inner	chr1:162153963..162155534	hg17	UCSC Ensembl
Outer	chr1:162153963..162157194	hg17	UCSC Ensembl

Cytoband

1q23.3

Allele length

Assembly	Allele length
hg38	3232
hg19	3232
hg18	3232
hg17	3232

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2756868

Supporting Variants

Samples

NA18515

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)

essv15940

Frequency

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