A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758638



Internal ID9634097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24932074..25175657hg38UCSC Ensembl
Innerchr16:24943395..25186978hg19UCSC Ensembl
Innerchr16:24850896..25094479hg18UCSC Ensembl
Innerchr16:24850896..25094479hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38243584
hg19243584
hg18243584
hg17243584
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758416, esv2757634
SamplesNA19209, NA19211, NA18508
Known GenesARHGAP17, LCMT1, LOC100506655, LOC554206
MethodBAC aCGH
SNP array
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
The 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)
Agilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758638
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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