A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2043946



Internal ID7715058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113700864..113701075hg38UCSC Ensembl
Outerchr9:113700701..113701261hg38UCSC Ensembl
Innerchr9:116463144..116463355hg19UCSC Ensembl
Outerchr9:116462981..116463541hg19UCSC Ensembl
Innerchr9:115502965..115503176hg18UCSC Ensembl
Outerchr9:115502802..115503362hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38561
hg19561
hg18561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4914094
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)esv2043946
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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