Variant Details

Variant: esv2757202

Internal ID

9632661

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:167931773..168206528	hg38	UCSC Ensembl
Inner	chr6:168332453..168607208	hg19	UCSC Ensembl
Inner	chr6:168075302..168350057	hg18	UCSC Ensembl
Inner	chr6:168151009..168425764	hg17	UCSC Ensembl

Cytoband

6q27

Allele length

Assembly	Allele length
hg38	274756
hg19	274756
hg18	274756
hg17	274756

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759493

Supporting Variants

essv19355, essv20475, essv20681, essv22019

Samples

NA12802, NA12815, NA12249, NA06985

Known Genes

FRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4

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)

esv2757202

Frequency

Sample Size	270
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a