A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2335294



Internal ID7659719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184845598..184851648hg38UCSC Ensembl
Outerchr1:184845388..184851837hg38UCSC Ensembl
Innerchr1:184814732..184820782hg19UCSC Ensembl
Outerchr1:184814522..184820971hg19UCSC Ensembl
Innerchr1:183081355..183087405hg18UCSC Ensembl
Outerchr1:183081145..183087594hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386450
hg196450
hg186450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4670110
SamplesNA18507
Known GenesFAM129A
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)esv2335294
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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