Variant Details

Variant: essv6199

Internal ID

9627972

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:48153345..48330995	hg38	UCSC Ensembl
Outer	chr12:48153345..48385779	hg38	UCSC Ensembl
Inner	chr12:48547128..48724778	hg19	UCSC Ensembl
Outer	chr12:48547128..48779562	hg19	UCSC Ensembl
Inner	chr12:46833395..47011045	hg18	UCSC Ensembl
Outer	chr12:46833395..47065829	hg18	UCSC Ensembl
Inner	chr12:46833395..47011045	hg17	UCSC Ensembl
Outer	chr12:46833395..47065829	hg17	UCSC Ensembl

Cytoband

12q13.11

Allele length

Assembly	Allele length
hg38	232435
hg19	232435
hg18	232435
hg17	232435

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757502

Supporting Variants

Samples

NA18563

Known Genes

ASB8, C12orf68, H1FNT, OR10AD1, ZNF641

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)

essv6199

Frequency

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