A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762080



Internal ID10029430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49542896..49563559hg38UCSC Ensembl
Innerchr20:48159433..48180096hg19UCSC Ensembl
Innerchr20:47592840..47613503hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3820664
hg1920664
hg1820664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004107
SamplesSW_1182
Known GenesPTGIS
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)esv2762080
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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