A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759035



Internal ID9634494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28953630..30316563hg38UCSC Ensembl
Innerchr2:29176496..30539429hg19UCSC Ensembl
Innerchr2:29030000..30392933hg18UCSC Ensembl
Innerchr2:29088147..30451080hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381362934
hg191362934
hg181362934
hg171362934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2756911, esv2757789
SamplesNA18579
Known GenesALK, C2orf71, CLIP4, FAM179A, LBH, YPEL5
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)esv2759035
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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