A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3572245

Internal ID18353757
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146872597..146876335hg38UCSC Ensembl
Innerchr7:146569689..146573427hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9785662, essv9785660, essv9785659, essv9785664, essv9785661, essv9785663
Samples400482MD, 401864CV, 400424LN, 400528LR, 401085LA, 401926MR
Known GenesCNTNAP2
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
Pubmed ID25503493
Accession Number(s)esv3572245
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0

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