A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2025644



Internal ID7696755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113756302..113756513hg38UCSC Ensembl
Outerchr13:113756248..113756562hg38UCSC Ensembl
Innerchr13:114459275..114459486hg19UCSC Ensembl
Outerchr13:114459221..114459535hg19UCSC Ensembl
Innerchr13:113654641..113654856hg18UCSC Ensembl
Outerchr13:113654592..113654910hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38315
hg19315
hg18319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4648590
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)esv2025644
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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