A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761184



Internal ID10028546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:45935912..46831640hg38UCSC Ensembl
Innerchr8:46847534..47743262hg19UCSC Ensembl
Innerchr8:46966699..47862427hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38895729
hg19895729
hg18895729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016776, essv7016777
SamplesRW_0591, RW_0195
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)esv2761184
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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