A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763853



Internal ID10377889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112124421..112144512hg38UCSC Ensembl
Innerchr4:113045577..113065668hg19UCSC Ensembl
Innerchr4:113265026..113285117hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3820092
hg1920092
hg1820092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029811, essv7029813, essv7029810
SamplesSW_0173, SW_1345, SW_0632
Known Genes
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)esv2763853
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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