A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813230



Internal ID18294366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37883431..38254553hg38UCSC Ensembl
Innerchr17:36243051..36410559hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38371123
hg19167509
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572931
Supporting Variants
Samples400430KV
Known GenesLOC440434, TBC1D3, 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
CommentsNumber of probes=40
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813230
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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