A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763675



Internal ID10376355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4037813..4096572hg38UCSC Ensembl
Innerchr20:4018460..4077219hg19UCSC Ensembl
Innerchr20:3966460..4025219hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3858760
hg1958760
hg1858760
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004005, essv7004006, essv7004007
SamplesSW_0639, SW_0189, SW_0169
Known Genes
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)esv2763675
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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