A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757082



Internal ID9979159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130999179..131461222hg38UCSC Ensembl
Innerchr4:131920334..132382377hg19UCSC Ensembl
Innerchr4:132139784..132601827hg18UCSC Ensembl
Innerchr4:132277939..132739982hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38462044
hg19462044
hg18462044
hg17462044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759282
Supporting Variantsessv24162, essv23709
SamplesNA12751, NA12740
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)esv2757082
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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