A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762057



Internal ID10029407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4127368..4168472hg38UCSC Ensembl
Innerchr20:4108015..4149119hg19UCSC Ensembl
Innerchr20:4056015..4097119hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3841105
hg1941105
hg1841105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004008
SamplesSW_0619
Known GenesSMOX
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)esv2762057
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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