A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813331



Internal ID18293359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39896348..40029806hg38UCSC Ensembl
Innerchr17:38052601..38186059hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38133459
hg19133459
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573064
Supporting Variants
Samples400383HL
Known GenesCSF3, GSDMA, GSDMB, LRRC3C, MED24, MIR6884, ORMDL3, PSMD3, SNORD124
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=111
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813331
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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