Variant Details

Variant: essv12026

Internal ID

9609255

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:8218724..8290023	hg38	UCSC Ensembl
Outer	chr12:8177104..8403817	hg38	UCSC Ensembl
Inner	chr12:8371320..8442619	hg19	UCSC Ensembl
Outer	chr12:8329700..8556413	hg19	UCSC Ensembl
Inner	chr12:8262587..8333886	hg18	UCSC Ensembl
Outer	chr12:8220967..8447680	hg18	UCSC Ensembl
Inner	chr12:8262587..8333886	hg17	UCSC Ensembl
Outer	chr12:8220967..8447680	hg17	UCSC Ensembl

Cytoband

12p13.31

Allele length

Assembly	Allele length
hg38	226714
hg19	226714
hg18	226714
hg17	226714

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2757488

Supporting Variants

Samples

NA19116

Known Genes

FAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A

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)

essv12026

Frequency

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