A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993250



Internal ID10015970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86097139..86158585hg38UCSC Ensembl
Innerchr8:87109368..87170814hg19UCSC Ensembl
Innerchr8:87178484..87239930hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3861447
hg1961447
hg1861447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761443
Supporting Variants
SamplesSW_1045
Known GenesATP6V0D2
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)essv6993250
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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