A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44e194



Internal ID22757658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13840595..13841294hg38UCSC Ensembl
chr9:13840594..13841293hg19UCSC Ensembl
chr9:13830594..13831293hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38700
hg19700
hg18700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2322677, esv2080821
SamplesNA18507
Known Genes
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)dgv44e194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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