A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv83e212



Internal ID20148539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112840756..112913925hg38UCSC Ensembl
chr1:113383378..113456547hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3873170
hg1973170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584248, esv3584137
Samples400821FE, 401437MJ
Known GenesLOC100996702, SLC16A1
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)dgv83e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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