A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1963892



Internal ID601985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148857364..148857667hg38UCSC Ensembl
Outerchr1:148857160..148857872hg38UCSC Ensembl
Innerchr1:145026747..145027050hg19UCSC Ensembl
Outerchr1:145026542..145027254hg19UCSC Ensembl
Innerchr1:143738104..143738407hg18UCSC Ensembl
Outerchr1:143737899..143738611hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4835846
SamplesNA18507
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)esv1963892
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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