A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762376



Internal ID10375174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197975430..198026933hg38UCSC Ensembl
Innerchr3:197702301..197753804hg19UCSC Ensembl
Innerchr3:199186698..199238201hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851504
hg1951504
hg1851504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7010181
SamplesRW_0003
Known GenesLMLN
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)esv2762376
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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