A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762727



Internal ID10375525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11842150..11843744hg38UCSC Ensembl
Innerchr8:11699659..11701253hg19UCSC Ensembl
Innerchr8:11737068..11738662hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016058
SamplesRW_0599
Known GenesCTSB
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)esv2762727
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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