A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1977419



Internal ID7301844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:68420997..68421218hg38UCSC Ensembl
Outerchr15:68420815..68421397hg38UCSC Ensembl
Innerchr15:68713336..68713557hg19UCSC Ensembl
Outerchr15:68713154..68713736hg19UCSC Ensembl
Innerchr15:66500390..66500611hg18UCSC Ensembl
Outerchr15:66500208..66500790hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38583
hg19583
hg18583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4765900
SamplesNA18507
Known GenesITGA11
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)esv1977419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer