A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581520



Internal ID18709718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22677371..23102646hg38UCSC Ensembl
Innerchr15:22770422..23195725hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38425276
hg19425304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv708e212
Supporting Variantsessv9807967
Samples400442FE
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
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)esv3581520
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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