A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760670



Internal ID10028032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17316866..17555369hg38UCSC Ensembl
Innerchr20:17297511..17536014hg19UCSC Ensembl
Innerchr20:17245511..17484014hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38238504
hg19238504
hg18238504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026268, essv7026267
SamplesRW_0510, RW_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)esv2760670
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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