A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2083461



Internal ID7407886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75701159..75701169hg38UCSC Ensembl
Outerchr13:75700933..75701384hg38UCSC Ensembl
Innerchr13:76275295..76275305hg19UCSC Ensembl
Outerchr13:76275069..76275520hg19UCSC Ensembl
Innerchr13:75173296..75173306hg18UCSC Ensembl
Outerchr13:75173070..75173521hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38452
hg19452
hg18452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4832765
SamplesNA18507
Known GenesLMO7
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)esv2083461
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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