A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2265092



Internal ID7936203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6693950..6694259hg38UCSC Ensembl
Outerchr19:6693859..6694357hg38UCSC Ensembl
Innerchr19:6693961..6694270hg19UCSC Ensembl
Outerchr19:6693870..6694368hg19UCSC Ensembl
Innerchr19:6644961..6645270hg18UCSC Ensembl
Outerchr19:6644870..6645368hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4854949
SamplesNA18507
Known GenesC3
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)esv2265092
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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