A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004104



Internal ID10004903
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 StatusS
Merged Variantsesv2763661
Supporting Variants
SamplesSW_0006
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)essv7004104
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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