A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762087



Internal ID10374885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54908976..54916088hg38UCSC Ensembl
Innerchr20:53525515..53532627hg19UCSC Ensembl
Innerchr20:52958922..52966034hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387113
hg197113
hg187113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004193
SamplesSW_1105
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)esv2762087
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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