A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9816158



Internal ID18309185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70003288..70207578hg38UCSC Ensembl
Innerchr18:67670524..67874814hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38204291
hg19204291
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583135
Supporting Variants
Samples400863SS
Known GenesRTTN
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=196
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9816158
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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