A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581792



Internal ID18363304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84158717..84246754hg38UCSC Ensembl
Innerchr15:84827469..84915506hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3888038
hg1988038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv752e212
Supporting Variantsessv9809306, essv9809305
Samples400068PW, 400328LM
Known GenesGOLGA6L4, LOC100505679, LOC388152, LOC440300, LOC642423
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)esv3581792
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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