A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9815361



Internal ID18296885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:136227..218394hg38UCSC Ensembl
Innerchr18:136227..218394hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3882168
hg1982168
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573886
Supporting Variants
Samples400508RD
Known GenesTHOC1, USP14
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=116
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9815361
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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