A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573391



Internal ID18701589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127412804..127424734hg38UCSC Ensembl
Innerchr9:130175083..130187013hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3811931
hg1911931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791670, essv9791675, essv9791665, essv9791672, essv9791671, essv9791673, essv9791669, essv9791674, essv9791668, essv9791666
Samples400336BG, 400674CA, 400526DR, 401853WR, 401952UH, 401616WP, 400315DA, 401480PG, 400238BB, 401993HM
Known GenesZNF79
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)esv3573391
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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