A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582628



Internal ID18364140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37884161..38194528hg38UCSC Ensembl
Innerchr17:36243781..36350584hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38310368
hg19106804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9813231
Samples400618GC
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H, YWHAEP7
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)esv3582628
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer