Variant Details

Variant: esv2759155

Internal ID

9981300

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:65190441..65238861	hg38	UCSC Ensembl
Inner	chr3:65176116..65224536	hg19	UCSC Ensembl
Inner	chr3:65151156..65199576	hg18	UCSC Ensembl
Inner	chr3:65151156..65199576	hg17	UCSC Ensembl

Cytoband

3p14.1

Allele length

Assembly	Allele length
hg38	48421
hg19	48421
hg18	48421
hg17	48421

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2756997

Samples

NA12248, NA10857, NA12750, NA18969, NA18944, NA10835, NA12891, NA07048, NA12761, NA07019, NA12878, NA18529, NA12056, NA18532, NA18974, NA12043, NA12763, NA07055, NA18609, NA07056

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)

esv2759155

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	19
Observed Complex	0
Frequency	n/a