A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580096



Internal ID18708294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7646240..7654203hg38UCSC Ensembl
Innerchr12:7798836..7806799hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387964
hg197964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800054, essv9800052, essv9800053
Samples400432VA, 400595CP, 402029KJ
Known GenesAPOBEC1
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)esv3580096
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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