A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572291



Internal ID18353803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148315725..148316761hg38UCSC Ensembl
Innerchr7:148012817..148013853hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9785918
Samples400270BD
Known GenesCNTNAP2, 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)esv3572291
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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