A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569809



Internal ID18351321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84158717..84550911hg38UCSC Ensembl
Innerchr15:84827469..85094142hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38392195
hg19266674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9809307, essv9809308
Samples401278DM, 401084BD
Known GenesDNM1P41, GOLGA6L4, GOLGA6L5P, LOC100505679, LOC388152, LOC440300, LOC642423, UBE2Q2P1
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)esv3569809
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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