A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762006



Internal ID10374804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42041983..42133952hg38UCSC Ensembl
Innerchr18:39621947..39713916hg19UCSC Ensembl
Innerchr18:37875945..37967914hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3891970
hg1991970
hg1891970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002824
SamplesSW_1139
Known GenesPIK3C3
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)esv2762006
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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