A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572607



Internal ID18354119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18067836..18072237hg38UCSC Ensembl
Innerchr8:17925345..17929746hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg384402
hg194402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2055e212
Supporting Variantsessv9787389
Samples400671PP
Known GenesASAH1
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)esv3572607
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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