A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763013



Internal ID10377724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132993913..133029983hg38UCSC Ensembl
Innerchr12:133570499..133606569hg19UCSC Ensembl
Innerchr12:132080572..132116642hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3836071
hg1936071
hg1836071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021217
SamplesRW_0272
Known GenesZNF26
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)esv2763013
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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