A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9774169



Internal ID18647820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12571804..12781648hg38UCSC Ensembl
Innerchr5:12571916..12781760hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38209845
hg19209845
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569988
Supporting Variants
Samples400619MP
Known GenesCT49
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
CommentsNumber of probes=332
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9774169
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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