A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv60e212



Internal ID20148516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84621504..84634345hg38UCSC Ensembl
chr1:85087187..85100028hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3812842
hg1912842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577991, esv3577992
Samples401027KW, 400203NA, 400785AK
Known GenesC1orf180
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)dgv60e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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