A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3570970

Internal ID18352482
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32396111..32404255hg38UCSC Ensembl
Innerchr6:32363888..32372032hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9778958, essv9778960, essv9778959, essv9778957, essv9778961, essv9778954, essv9778955
Samples401230NL, 401478RD, 400171BJ, 400213DB, 400553PP, 401448BJ, 401066MM
Known GenesBTNL2
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)esv3570970
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0

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