A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760373



Internal ID10027736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101785297..101928837hg38UCSC Ensembl
Innerchr15:102325500..102469040hg19UCSC Ensembl
Innerchr15:100143023..100286563hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38143541
hg19143541
hg18143541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023560, essv7023563, essv7023561, essv7023562
SamplesRW_0617, RW_0357, RW_0619, RW_0220
Known GenesOR4F13P, OR4F15, OR4F4, OR4F6
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)esv2760373
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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