A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026267



Internal ID9987033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17316866..17550997hg38UCSC Ensembl
Innerchr20:17297511..17531642hg19UCSC Ensembl
Innerchr20:17245511..17479642hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38234132
hg19234132
hg18234132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760670
Supporting Variants
SamplesRW_0057
Known GenesBFSP1, PCSK2
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7026267
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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