A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762394



Internal ID10029744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12281..71674hg38UCSC Ensembl
Innerchr4:12281..71566hg19UCSC Ensembl
Innerchr4:2281..61566hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3859394
hg1959286
hg1859286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e203
Supporting Variantsessv7010205
SamplesRW_0614
Known GenesZNF595, ZNF718
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)esv2762394
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer