A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2156e212



Internal ID20150612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69476045..69512249hg38UCSC Ensembl
chr9:72090961..72127165hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3836205
hg1936205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576659, esv3576661
Samples400308SP, 400506GN, 401253MC, 401281BP, 401695BT, 400598DA
Known GenesAPBA1
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)dgv2156e212
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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