A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv708e212



Internal ID22783635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22581937..23102646hg38UCSC Ensembl
chr15:22770422..23291159hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38520710
hg19520738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581521, esv3581520, esv3581519, esv3581522, esv3581523
Samples402019MC, 401401BA, 400442FE, 401493HC, 401914PR, 401010HT
Known GenesCYFIP1, GOLGA8I, HERC2P2, 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)dgv708e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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