A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764086



Internal ID10378122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:9359074..9477091hg38UCSC Ensembl
Innerchr8:9216584..9334601hg19UCSC Ensembl
Innerchr8:9253994..9372011hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118018
hg19118018
hg18118018
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992408, essv6992409
SamplesSW_0874, SW_1028
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)esv2764086
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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