A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1926609



Internal ID7253526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96787829..96787901hg38UCSC Ensembl
Outerchr8:96787655..96788078hg38UCSC Ensembl
Innerchr8:97800057..97800129hg19UCSC Ensembl
Outerchr8:97799883..97800306hg19UCSC Ensembl
Innerchr8:97869233..97869305hg18UCSC Ensembl
Outerchr8:97869059..97869482hg18UCSC Ensembl
Cytoband8q22.1
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 Variantsessv4963132
SamplesNA18507
Known GenesCPQ
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)esv1926609
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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