A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv764e212



Internal ID20149220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101672731..101749528hg38UCSC Ensembl
chr15:102212934..102289731hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3876798
hg1976798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569931, esv3569942
Samples400344DR, 401785MJ
Known GenesTARSL2
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)dgv764e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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