A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762959



Internal ID10030309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1528747..1571785hg38UCSC Ensembl
Innerchr12:1637913..1680951hg19UCSC Ensembl
Innerchr12:1508174..1551212hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3843039
hg1943039
hg1843039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020338
SamplesRW_0330
Known GenesFBXL14
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)esv2762959
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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