A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762674



Internal ID10030024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70752618..70829950hg38UCSC Ensembl
Innerchr2:70979750..71057081hg19UCSC Ensembl
Innerchr2:70833258..70910589hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3877333
hg1977332
hg1877332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014733
SamplesSW_0785
Known GenesADD2, CLEC4F, FIGLA
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)esv2762674
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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