A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761193



Internal ID10377500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133148865..133170855hg38UCSC Ensembl
Innerchr8:134161109..134183099hg19UCSC Ensembl
Innerchr8:134230291..134252281hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3821991
hg1921991
hg1821991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017295, essv7017301, essv7017296, essv7017297, essv7017302, essv7017298
SamplesRW_0525, RW_0065, RW_0193, RW_0032, RW_0191, RW_0034
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)esv2761193
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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