A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757584



Internal ID9979661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93845988..93877956hg38UCSC Ensembl
Innerchr14:94312334..94344302hg19UCSC Ensembl
Innerchr14:93382087..93414055hg18UCSC Ensembl
Innerchr14:93382087..93414055hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3831969
hg1931969
hg1831969
hg1731969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760009
Supporting Variantsessv8269, essv9478
SamplesNA19154, NA19153
Known Genes
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)
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2757584
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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