A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4830067



Internal ID7069013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149198007..149198088hg38UCSC Ensembl
Outerchr5:149197837..149198255hg38UCSC Ensembl
Innerchr5:148577570..148577651hg19UCSC Ensembl
Outerchr5:148577400..148577818hg19UCSC Ensembl
Innerchr5:148557763..148557844hg18UCSC Ensembl
Outerchr5:148557593..148558011hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38419
hg19419
hg18419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1941617
Supporting Variants
SamplesNA18507
Known GenesABLIM3
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)essv4830067
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer