A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1943257



Internal ID581350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148989365..148990350hg38UCSC Ensembl
Outerchr1:148989170..148990560hg38UCSC Ensembl
Innerchr1:144894124..144895109hg19UCSC Ensembl
Outerchr1:144893914..144895304hg19UCSC Ensembl
Innerchr1:143605481..143606466hg18UCSC Ensembl
Outerchr1:143605271..143606661hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381391
hg191391
hg181391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4759527
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)esv1943257
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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