A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582000



Internal ID18363512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8539178..8549617hg38UCSC Ensembl
Innerchr16:8589180..8599619hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3810440
hg1910440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv790e212
Supporting Variantsessv9809898, essv9809897, essv9809900, essv9809896, essv9809901
Samples400768MN, 400422PN, 400849SH, 400315DA, 400890IT
Known Genes
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)esv3582000
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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