A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2236053



Internal ID7560478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51454960..51455129hg38UCSC Ensembl
Outerchr8:51454755..51455336hg38UCSC Ensembl
Innerchr8:52367520..52367689hg19UCSC Ensembl
Outerchr8:52367315..52367896hg19UCSC Ensembl
Innerchr8:52530073..52530242hg18UCSC Ensembl
Outerchr8:52529868..52530449hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38582
hg19582
hg18582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4671604
SamplesNA18507
Known GenesPXDNL
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)esv2236053
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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