A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4649745



Internal ID6888691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99149149..99149446hg38UCSC Ensembl
Outerchr4:99148928..99149647hg38UCSC Ensembl
Innerchr4:100070306..100070603hg19UCSC Ensembl
Outerchr4:100070085..100070804hg19UCSC Ensembl
Innerchr4:100289329..100289626hg18UCSC Ensembl
Outerchr4:100289108..100289827hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38720
hg19720
hg18720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2146603
Supporting Variants
SamplesNA18507
Known GenesLOC100507053
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)essv4649745
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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