A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763661



Internal ID10031011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47837153..48489530hg38UCSC Ensembl
Innerchr20:46465897..47117776hg19UCSC Ensembl
Innerchr20:45899304..46551183hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38652378
hg19651880
hg18651880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004104, essv7004105
SamplesSW_0006, SW_0226
Known GenesLINC00494
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)esv2763661
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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