A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2273382



Internal ID7597807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96695553..96695700hg38UCSC Ensembl
Outerchr13:96695425..96695820hg38UCSC Ensembl
Innerchr13:97347807..97347954hg19UCSC Ensembl
Outerchr13:97347679..97348074hg19UCSC Ensembl
Innerchr13:96145808..96145955hg18UCSC Ensembl
Outerchr13:96145680..96146075hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38396
hg19396
hg18396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4996300
SamplesNA18507
Known GenesHS6ST3
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)esv2273382
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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