A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809778



Internal ID18300973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2613366..2700191hg38UCSC Ensembl
Innerchr16:2663367..2750192hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3886826
hg1986826
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570132
Supporting Variants
Samples400615RI
Known GenesERVK13-1, FLJ42627, KCTD5, 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
CommentsNumber of probes=42
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809778
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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