A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762082



Internal ID10374880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51898971..51917712hg38UCSC Ensembl
Innerchr20:50515510..50534251hg19UCSC Ensembl
Innerchr20:49948917..49967658hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3818742
hg1918742
hg1818742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004109
SamplesSW_0819
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)esv2762082
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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