A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581514



Internal ID18709712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23375045..23437561hg38UCSC Ensembl
Innerchr15:23620192..23682708hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3862517
hg1962517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv712e212
Supporting Variantsessv9808054, essv9808051, essv9808052, essv9808050, essv9808053
Samples400127MD, 401478RD, 400547BS, 401844ZD, 401693RC
Known Genes
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)esv3581514
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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