A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764079



Internal ID10378115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50969223..51290320hg38UCSC Ensembl
Innerchr8:51881783..52202880hg19UCSC Ensembl
Innerchr8:52044336..52365433hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38321098
hg19321098
hg18321098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6993170, essv6993171
SamplesSW_0636, SW_1389
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)esv2764079
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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