A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2102930



Internal ID7427355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:77618532..77618893hg38UCSC Ensembl
Outerchr15:77618336..77619096hg38UCSC Ensembl
Innerchr15:77910874..77911235hg19UCSC Ensembl
Outerchr15:77910678..77911438hg19UCSC Ensembl
Innerchr15:75697929..75698290hg18UCSC Ensembl
Outerchr15:75697733..75698493hg18UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg38761
hg19761
hg18761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4895439
SamplesNA18507
Known GenesLINGO1
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)esv2102930
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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