A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4592947



Internal ID7178579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113583618..113583816hg38UCSC Ensembl
Outerchr13:113583515..113583860hg38UCSC Ensembl
Innerchr13:114237933..114238131hg19UCSC Ensembl
Outerchr13:114237830..114238175hg19UCSC Ensembl
Innerchr13:113285934..113286132hg18UCSC Ensembl
Outerchr13:113285831..113286176hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2179111
Supporting Variants
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)essv4592947
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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