A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760771



Internal ID10377078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:110544284..110569913hg38UCSC Ensembl
Innerchr3:110263131..110288760hg19UCSC Ensembl
Innerchr3:111745821..111771450hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3825630
hg1925630
hg1825630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009283, essv7009284, essv7009285, essv7009286
SamplesRW_0624, RW_0122, RW_0341, RW_0209
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)esv2760771
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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