A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2394182



Internal ID1032275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:88855539..88856760hg38UCSC Ensembl
Outerchr15:88855431..88856810hg38UCSC Ensembl
Innerchr15:89398770..89399991hg19UCSC Ensembl
Outerchr15:89398662..89400041hg19UCSC Ensembl
Innerchr15:87199774..87200995hg18UCSC Ensembl
Outerchr15:87199666..87201045hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381380
hg191380
hg181380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4724016
SamplesNA18507
Known GenesACAN
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)esv2394182
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