A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2018264



Internal ID7689375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110907084..110907308hg38UCSC Ensembl
Outerchr13:110906877..110907518hg38UCSC Ensembl
Innerchr13:111559431..111559655hg19UCSC Ensembl
Outerchr13:111559224..111559865hg19UCSC Ensembl
Innerchr13:110357432..110357656hg18UCSC Ensembl
Outerchr13:110357225..110357866hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38642
hg19642
hg18642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4682313
SamplesNA18507
Known GenesANKRD10
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)esv2018264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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