A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762749



Internal ID10375547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69880467..69903414hg38UCSC Ensembl
Innerchr8:70792702..70815649hg19UCSC Ensembl
Innerchr8:70955256..70978203hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3822948
hg1922948
hg1822948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016941
SamplesRW_0309
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)esv2762749
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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