A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv100e212



Internal ID22783027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152554167..152619805hg38UCSC Ensembl
chr1:152526643..152592281hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3865639
hg1965639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578181, esv3578180
Samples401819BS, 400478WE, 401952UH
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
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)dgv100e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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