A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2086747



Internal ID724840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63145367..63145404hg38UCSC Ensembl
Outerchr18:63145172..63145599hg38UCSC Ensembl
Innerchr18:60812600..60812637hg19UCSC Ensembl
Outerchr18:60812405..60812832hg19UCSC Ensembl
Innerchr18:58963580..58963617hg18UCSC Ensembl
Outerchr18:58963385..58963812hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38428
hg19428
hg18428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4966295
SamplesNA18507
Known GenesBCL2
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)esv2086747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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