A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572195



Internal ID18353707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142719748..142785828hg38UCSC Ensembl
Innerchr7:142427572..142493637hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3866081
hg1966066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969e212
Supporting Variantsessv9785156
Samples401359HF
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)esv3572195
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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