A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583642



Internal ID18365154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9839637..9845584hg38UCSC Ensembl
Innerchr2:9979766..9985713hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1100e212
Supporting Variantsessv9814534
Samples401495NR
Known GenesTAF1B
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3583642
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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