A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757490



Internal ID9632949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9703362..9735957hg38UCSC Ensembl
Innerchr12:9855958..9888553hg19UCSC Ensembl
Innerchr12:9747225..9779820hg18UCSC Ensembl
Innerchr12:9747225..9779820hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3832596
hg1932596
hg1832596
hg1732596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759878
Supporting Variantsessv13409, essv14824
SamplesNA18870, NA18872
Known GenesCLECL1
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)esv2757490
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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