A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763659



Internal ID10031009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38087420..38226717hg38UCSC Ensembl
Innerchr20:36715822..36855119hg19UCSC Ensembl
Innerchr20:36149236..36288533hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38139298
hg19139298
hg18139298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004083, essv7004082
SamplesSW_1409, SW_0165
Known GenesKIAA1755, RPRD1B, TGM2
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)esv2763659
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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