Variant Details

Variant: essv595

Internal ID

9627695

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:42874755..43029369	hg38	UCSC Ensembl
Outer	chr19:42733612..43118456	hg38	UCSC Ensembl
Inner	chr19:43378907..43533521	hg19	UCSC Ensembl
Outer	chr19:43237764..43622608	hg19	UCSC Ensembl
Inner	chr19:48070747..48225361	hg18	UCSC Ensembl
Outer	chr19:47929604..48314448	hg18	UCSC Ensembl
Inner	chr19:48070747..48225361	hg17	UCSC Ensembl
Outer	chr19:47929604..48314448	hg17	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	384845
hg19	384845
hg18	384845
hg17	384845

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757697

Supporting Variants

Samples

NA18947

Known Genes

LOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG6, PSG7, PSG8

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)

essv595

Frequency

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