A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4672708



Internal ID6911654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44794898..44795478hg38UCSC Ensembl
Outerchr5:44794719..44795656hg38UCSC Ensembl
Innerchr5:44795000..44795580hg19UCSC Ensembl
Outerchr5:44794821..44795758hg19UCSC Ensembl
Innerchr5:44830757..44831337hg18UCSC Ensembl
Outerchr5:44830578..44831515hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38938
hg19938
hg18938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1931459
Supporting Variants
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)essv4672708
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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