A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760476



Internal ID10027839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79224569..79439105hg38UCSC Ensembl
Innerchr18:76984569..77199105hg19UCSC Ensembl
Innerchr18:75085557..75300093hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38214537
hg19214537
hg18214537
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7025282, essv7025281
SamplesRW_0110, RW_0075
Known GenesATP9B, NFATC1
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)esv2760476
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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