A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2340092



Internal ID7664517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:92571267..92571302hg38UCSC Ensembl
Outerchr8:92571074..92571495hg38UCSC Ensembl
Innerchr8:93583495..93583530hg19UCSC Ensembl
Outerchr8:93583302..93583723hg19UCSC Ensembl
Innerchr8:93652671..93652706hg18UCSC Ensembl
Outerchr8:93652478..93652899hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38422
hg19422
hg18422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4526768
SamplesNA18507
Known Genes
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)esv2340092
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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