A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7017051



Internal ID10004115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:89392363..89579780hg38UCSC Ensembl
Innerchr8:90404592..90592009hg19UCSC Ensembl
Innerchr8:90473708..90661125hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38187418
hg19187418
hg18187418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761173
Supporting Variants
SamplesRW_0652
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)essv7017051
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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