A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762058



Internal ID10374856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4950385..4984059hg38UCSC Ensembl
Innerchr20:4931031..4964705hg19UCSC Ensembl
Innerchr20:4879031..4912705hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833675
hg1933675
hg1833675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004009
SamplesSW_0605
Known GenesSLC23A2
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)esv2762058
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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