A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv975e212



Internal ID20149431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31385113..31471686hg38UCSC Ensembl
chr18:28965076..29051649hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3886574
hg1986574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573953, esv3573964, esv3573942
Samples400076LC, 400643LD, 401240ML, 401353BC
Known GenesDSG3, DSG4
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)dgv975e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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