A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572274



Internal ID18700472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148017618..148019869hg38UCSC Ensembl
Innerchr7:147714710..147716961hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1989e212
Supporting Variantsessv9785860, essv9785861, essv9785862, essv9785859
Samples400893ZE, 401281BP, 400759FV, 400971MK
Known GenesCNTNAP2, MIR548F3, MIR548T
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)esv3572274
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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