A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv895e212



Internal ID22783822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19019105..19248776hg38UCSC Ensembl
chr17:18922418..19152089hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38229672
hg19229672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582559, esv3582558
Samples401192MJ, 401786WD
Known GenesEPN2, GRAP, GRAPL, SLC5A10
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)dgv895e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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