A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761416



Internal ID10028773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17056902..17178752hg38UCSC Ensembl
Innerchr8:16914411..17036261hg19UCSC Ensembl
Innerchr8:16958782..17080632hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38121851
hg19121851
hg18121851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992815
SamplesSW_0771
Known GenesMICU3, ZDHHC2
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)esv2761416
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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