A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017303



Internal ID10345551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133614531..133633461hg38UCSC Ensembl
Innerchr8:134626774..134645704hg19UCSC Ensembl
Innerchr8:134695956..134714886hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3818931
hg1918931
hg1818931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762770
Supporting Variants
SamplesRW_0512
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)essv7017303
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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