A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759444



Internal ID9981589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:76708370..76766946hg38UCSC Ensembl
Innerchr6:77418087..77476663hg19UCSC Ensembl
Innerchr6:77474806..77533382hg18UCSC Ensembl
Innerchr6:77474806..77533382hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3858577
hg1958577
hg1858577
hg1758577
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757180
SamplesNA12717, NA11830, NA11995, NA18862, NA12814, NA10851, NA18561, NA18545, NA12004, NA12146, NA12865, NA10857, NA19098, NA18870, NA12155, NA10846, NA10854, NA12802, NA07048, NA12762, NA18970, NA07019, NA12044, NA19172, NA12815, NA19159, NA10839, NA10863, NA18516, NA11839, NA12234, NA11840, NA18856, NA12056, NA12239, NA12707, NA07345, NA12144, NA19160, NA10856, NA11882, NA12716, NA11881, NA18863, NA10859, NA19100, NA12874, NA07348, NA19143, NA06994, NA19173, NA18854, NA18852, NA07056, NA12006, NA07034
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)esv2759444
Frequency
Sample Size270
Observed Gain1
Observed Loss55
Observed Complex0
Frequencyn/a


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