A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759733

Internal ID9635192
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13007081..13022407hg38UCSC Ensembl
Innerchr10:13049081..13064407hg19UCSC Ensembl
Innerchr10:13089087..13104413hg18UCSC Ensembl
Innerchr10:13089087..13104413hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757368
SamplesNA10839, NA12813, NA07019
Known GenesCCDC3
MethodSNP array
AnalysisThe 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.
PlatformAffymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP)
Pubmed ID17122850
Accession Number(s)esv2759733
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0

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