A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759824

Internal ID9635283
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48282119..49163638hg38UCSC Ensembl
Innerchr11:48303671..49185190hg19UCSC Ensembl
Innerchr11:48260247..49141766hg18UCSC Ensembl
Innerchr11:48260247..49141766hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757441, esv2758267, esv2758268
SamplesNA12707, NA18573, NA18624, NA18636, NA12716
Known GenesFOLH1, OR4A47, OR4C3, OR4C45, OR4S1, TRIM49B, TRIM64C
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)
Pubmed ID17122850
Accession Number(s)esv2759824
Sample Size270
Observed Gain2
Observed Loss3
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer