A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583006



Internal ID18711204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36039805..36055592hg38UCSC Ensembl
Innerchr18:33619768..33635555hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3815788
hg1915788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv978e212
Supporting Variantsessv9815591, essv9815586, essv9815585, essv9815582, essv9815588, essv9815583, essv9815590, essv9815581, essv9815584, essv9815587
Samples400364SS, 401918CA, 400425SL, 401519SA, 401067BD, 400319HT, 400611GG, 402073LQ, 401254AE, 401993HM
Known GenesRPRD1A
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)esv3583006
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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