A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760710



Internal ID10028072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111735404..111876910hg38UCSC Ensembl
Innerchr12:112173208..112314714hg19UCSC Ensembl
Innerchr12:110657591..110799097hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38141507
hg19141507
hg18141507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997574, essv6997573
SamplesSW_1051, SW_1125
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
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)esv2760710
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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