A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570086



Internal ID18351598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2613366..2679764hg38UCSC Ensembl
Innerchr16:2663367..2729765hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3866399
hg1966399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv780e212
Supporting Variantsessv9809775, essv9809772, essv9809774, essv9809773
Samples401808PS, 401369GR, 401359HF, 401912HD
Known GenesERVK13-1, FLJ42627, LOC652276
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)esv3570086
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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