A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572095



Internal ID18700293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116542756..116549287hg38UCSC Ensembl
Innerchr7:116182810..116189341hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1953e212
Supporting Variantsessv9784759
Samples401496SL
Known GenesCAV1
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)esv3572095
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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