A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2081110



Internal ID7752221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:36662472..36662516hg38UCSC Ensembl
Outerchr15:36662261..36662714hg38UCSC Ensembl
Innerchr15:36954673..36954717hg19UCSC Ensembl
Outerchr15:36954462..36954915hg19UCSC Ensembl
Innerchr15:34741965..34742009hg18UCSC Ensembl
Outerchr15:34741754..34742207hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38454
hg19454
hg18454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4642657
SamplesNA18507
Known GenesC15orf41
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)esv2081110
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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