A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572820



Internal ID18354332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37951464..38262526hg38UCSC Ensembl
Innerchr17:36311009..36418529hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38311063
hg19107521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv914e212
Supporting Variantsessv9813307, essv9813308
Samples401630MK, 400978JG
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
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)esv3572820
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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