A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2124797



Internal ID762890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148983422..148988202hg38UCSC Ensembl
Outerchr1:148983291..148988345hg38UCSC Ensembl
Innerchr1:144896272..144901052hg19UCSC Ensembl
Outerchr1:144896129..144901183hg19UCSC Ensembl
Innerchr1:143607629..143612409hg18UCSC Ensembl
Outerchr1:143607486..143612540hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385055
hg195055
hg185055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4913361
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)esv2124797
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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