A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2756821



Internal ID9632280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14741612..14865986hg38UCSC Ensembl
Innerchr18:14741611..14865985hg19UCSC Ensembl
Innerchr18:14731611..14855985hg18UCSC Ensembl
Innerchr18:14731611..14855985hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38124375
hg19124375
hg18124375
hg17124375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758715
Supporting Variantsessv17854, essv24101, essv21900, essv21877
SamplesNA10857, NA07048, NA10838, NA06991
Known GenesANKRD30B, MIR3156-2
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)esv2756821
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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