A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2262289



Internal ID7933400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12293279..12293578hg38UCSC Ensembl
Outerchr17:12293068..12293789hg38UCSC Ensembl
Innerchr17:12196596..12196895hg19UCSC Ensembl
Outerchr17:12196385..12197106hg19UCSC Ensembl
Innerchr17:12137321..12137620hg18UCSC Ensembl
Outerchr17:12137110..12137831hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38722
hg19722
hg18722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4650936
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)esv2262289
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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