A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762073



Internal ID10029423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:39151535..39232096hg38UCSC Ensembl
Innerchr20:37780178..37860739hg19UCSC Ensembl
Innerchr20:37213592..37294153hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3880562
hg1980562
hg1880562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004087
SamplesSW_1412
Known GenesLOC339568
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)esv2762073
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