A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762854



Internal ID10030204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186577969..186878442hg38UCSC Ensembl
Innerchr1:186547101..186847574hg19UCSC Ensembl
Innerchr1:184813724..185114197hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38300474
hg19300474
hg18300474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003312, essv7003301
SamplesSW_0647, SW_0568
Known GenesPLA2G4A, PTGS2
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)esv2762854
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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