A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1970441



Internal ID7294867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50068657..50068817hg38UCSC Ensembl
Outerchr13:50068483..50069008hg38UCSC Ensembl
Innerchr13:50642793..50642953hg19UCSC Ensembl
Outerchr13:50642619..50643144hg19UCSC Ensembl
Innerchr13:49540794..49540954hg18UCSC Ensembl
Outerchr13:49540620..49541145hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38526
hg19526
hg18526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4794759
SamplesNA18507
Known GenesDLEU2
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)esv1970441
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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