A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2232393



Internal ID7556818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25209172..25213136hg38UCSC Ensembl
Outerchr8:25208965..25213330hg38UCSC Ensembl
Innerchr8:25066688..25070652hg19UCSC Ensembl
Outerchr8:25066481..25070846hg19UCSC Ensembl
Innerchr8:25122605..25126569hg18UCSC Ensembl
Outerchr8:25122398..25126763hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384366
hg194366
hg184366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4747198
SamplesNA18507
Known GenesDOCK5
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)esv2232393
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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