A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2057050



Internal ID7381475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111403369..111407464hg38UCSC Ensembl
Outerchr9:111403227..111407598hg38UCSC Ensembl
Innerchr9:114165649..114169744hg19UCSC Ensembl
Outerchr9:114165507..114169878hg19UCSC Ensembl
Innerchr9:113205470..113209565hg18UCSC Ensembl
Outerchr9:113205328..113209699hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384372
hg194372
hg184372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4616519
SamplesNA18507
Known GenesKIAA0368
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)esv2057050
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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