A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761722



Internal ID10029072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3265068..3312660hg38UCSC Ensembl
Innerchr12:3374234..3421826hg19UCSC Ensembl
Innerchr12:3244495..3292087hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3847593
hg1947593
hg1847593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6996555
SamplesSW_1108
Known GenesTSPAN9
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)esv2761722
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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