A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569179



Internal ID18350691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645876..189654175hg38UCSC Ensembl
Innerchr3:189363665..189371964hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1439e212
Supporting Variantsessv9769238, essv9769233, essv9769237, essv9769241, essv9769240, essv9769236, essv9769239, essv9769235, essv9769232
Samples400068PW, 400453LN, 400773GS, 401348RB, 401017SC, 400603CJ, 401795SP, 401922MW, 400130HA
Known GenesTP63
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)esv3569179
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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