A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2109813



Internal ID7434238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127283018..127283039hg38UCSC Ensembl
Outerchr8:127282800..127283239hg38UCSC Ensembl
Innerchr8:128295263..128295284hg19UCSC Ensembl
Outerchr8:128295045..128295484hg19UCSC Ensembl
Innerchr8:128364445..128364466hg18UCSC Ensembl
Outerchr8:128364227..128364666hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38440
hg19440
hg18440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4859909
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)esv2109813
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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