A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2387830



Internal ID7712255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:47972693..47972742hg38UCSC Ensembl
Outerchr7:47972509..47972911hg38UCSC Ensembl
Innerchr7:48012290..48012339hg19UCSC Ensembl
Outerchr7:48012106..48012508hg19UCSC Ensembl
Innerchr7:47978815..47978864hg18UCSC Ensembl
Outerchr7:47978631..47979033hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38403
hg19403
hg18403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4937648
SamplesNA18507
Known GenesHUS1
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)esv2387830
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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