A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4667618



Internal ID7253250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109577605..109577908hg38UCSC Ensembl
Outerchr4:109577393..109578116hg38UCSC Ensembl
Innerchr4:110498761..110499064hg19UCSC Ensembl
Outerchr4:110498549..110499272hg19UCSC Ensembl
Innerchr4:110718210..110718513hg18UCSC Ensembl
Outerchr4:110717998..110718721hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38724
hg19724
hg18724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2350206
Supporting Variants
SamplesNA18507
Known GenesCCDC109B
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)essv4667618
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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