A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762079



Internal ID10029429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49095851..49155612hg38UCSC Ensembl
Innerchr20:47712388..47772149hg19UCSC Ensembl
Innerchr20:47145795..47205556hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3859762
hg1959762
hg1859762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004106
SamplesSW_0789
Known GenesCSE1L, STAU1
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)esv2762079
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