A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575805



Internal ID18704003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17268388..17293502hg38UCSC Ensembl
Innerchr1:17594883..17619997hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3825115
hg1925115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19e212
Supporting Variantsessv9801866, essv9801977, essv9802088
Samples401133JG, 400525MR, 401510DG
Known GenesPADI3
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)esv3575805
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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