A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv761e212



Internal ID22783688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100990051..100996926hg38UCSC Ensembl
chr15:101530256..101537131hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg386876
hg196876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581870, esv3581869, esv3581865
Samples400145BL, 401292ER, 400866RR, 400411TG, 400040CN, 400361HC
Known GenesLRRK1
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)dgv761e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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