A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763741



Internal ID10377777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:155763308..155774388hg38UCSC Ensembl
Innerchr3:155481097..155492177hg19UCSC Ensembl
Innerchr3:156963791..156974871hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg3811081
hg1911081
hg1811081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027971, essv7027967, essv7027970
SamplesSW_0785, SW_1162, SW_0113
Known GenesC3orf33
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)esv2763741
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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