A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763709



Internal ID10377745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:80456188..80540876hg38UCSC Ensembl
Innerchr3:80505338..80590026hg19UCSC Ensembl
Innerchr3:80588028..80672716hg18UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3884689
hg1984689
hg1884689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027470, essv7027469
SamplesSW_1057, SW_1380
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)esv2763709
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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