A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4643431



Internal ID6882377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25686251..25687233hg38UCSC Ensembl
Outerchr15:25686056..25687414hg38UCSC Ensembl
Innerchr15:25931398..25932380hg19UCSC Ensembl
Outerchr15:25931203..25932561hg19UCSC Ensembl
Innerchr15:23482491..23483473hg18UCSC Ensembl
Outerchr15:23482296..23483654hg18UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2346004
Supporting Variants
SamplesNA18507
Known GenesATP10A
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)essv4643431
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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