A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1887e212



Internal ID20150343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38246914..38317131hg38UCSC Ensembl
chr7:38286515..38356732hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3870218
hg1970218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576335, esv3576319, esv3576332, esv3576328, esv3576336, esv3576326, esv3576311
Samples401459HF, 401258PC, 400460DM, 400983PV, 400533BB, 400450FG, 400943DV, 400205SP, 400879DS, 401510DG
Known GenesTARP
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)dgv1887e212
Frequency
Sample Size873
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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