A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2005767



Internal ID643860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118947245..118947279hg38UCSC Ensembl
Outerchr8:118947049..118947472hg38UCSC Ensembl
Innerchr8:119959484..119959518hg19UCSC Ensembl
Outerchr8:119959288..119959711hg19UCSC Ensembl
Innerchr8:120028665..120028699hg18UCSC Ensembl
Outerchr8:120028469..120028892hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38424
hg19424
hg18424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4918919
SamplesNA18507
Known GenesTNFRSF11B
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2005767
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer