A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9801859



Internal ID18625443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92727118..92930155hg38UCSC Ensembl
Innerchr12:93120894..93323931hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38203038
hg19203038
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581793
Supporting Variants
Samples400014SL
Known GenesEEA1, PLEKHG7
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
CommentsNumber of probes=204
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9801859
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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