A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568937



Internal ID18697135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99218082..99242676hg38UCSC Ensembl
Innerchr3:98936926..98961520hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3824595
hg1924595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1396e212
Supporting Variantsessv9767670, essv9767668, essv9767669
Samples401385BB, 401841OB, 401510DG
Known Genes
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)esv3568937
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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