A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576452



Internal ID18357964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142719410..142802013hg38UCSC Ensembl
Innerchr7:142427234..142499697hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3882604
hg1972464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1968e212
Supporting Variantsessv9785154
Samples401990PR
Known GenesPRSS1, PRSS2, PRSS3P2
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)esv3576452
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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