A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4570805



Internal ID7156437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17104717..17105023hg38UCSC Ensembl
Outerchr8:17104509..17105225hg38UCSC Ensembl
Innerchr8:16962226..16962532hg19UCSC Ensembl
Outerchr8:16962018..16962734hg19UCSC Ensembl
Innerchr8:17006597..17006903hg18UCSC Ensembl
Outerchr8:17006389..17007105hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1983650
Supporting Variants
SamplesNA18507
Known GenesMICU3
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)essv4570805
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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