A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv216e212



Internal ID20148672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46526513..46583083hg38UCSC Ensembl
chr10:46966534..47028298hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3856571
hg1961765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578814, esv3578823, esv3578820
Samples402016HZ, 401677MM, 401331LJ
Known GenesGPRIN2, SYT15
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)dgv216e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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