A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025052



Internal ID10341913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59984989..59997792hg38UCSC Ensembl
Innerchr18:57652221..57665024hg19UCSC Ensembl
Innerchr18:55803201..55816004hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3812804
hg1912804
hg1812804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760472
Supporting Variants
SamplesRW_0257
Known Genes
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)essv7025052
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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