A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762308



Internal ID10029658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:271980..285057hg38UCSC Ensembl
Innerchr3:313663..326740hg19UCSC Ensembl
Innerchr3:288663..301740hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3813078
hg1913078
hg1813078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008731
SamplesRW_0210
Known GenesCHL1
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)esv2762308
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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