A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9819818



Internal ID18299945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54035926..54038092hg38UCSC Ensembl
Innerchr20:52652465..52654631hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382167
hg192167
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3568053
Supporting Variants
Samples400588BE
Known GenesBCAS1
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=22
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9819818
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer