A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760921



Internal ID10377228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133076187..133201603hg38UCSC Ensembl
Innerchr12:133652773..133778189hg19UCSC Ensembl
Innerchr12:132162846..132288262hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38125417
hg19125417
hg18125417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997718, essv6997717
SamplesSW_1361, SW_1104
Known GenesZNF10, ZNF140, ZNF268, ZNF891
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)esv2760921
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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