A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759006



Internal ID9634465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236703536..236739064hg38UCSC Ensembl
Innerchr1:236866836..236902364hg19UCSC Ensembl
Innerchr1:234933459..234968987hg18UCSC Ensembl
Innerchr1:233192877..233228405hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3835529
hg1935529
hg1835529
hg1735529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2756888
SamplesNA10855, NA11832
Known GenesACTN2
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)esv2759006
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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