A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576450



Internal ID18704648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142634755..142785829hg38UCSC Ensembl
Innerchr7:142342271..142493638hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38151075
hg19151368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9785150, essv9785151
Samples400320RN, 400508RD
Known GenesMTRNR2L6, PRSS1, 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)esv3576450
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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