A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2145234



Internal ID7469659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173608284..173609251hg38UCSC Ensembl
Outerchr5:173608135..173609424hg38UCSC Ensembl
Innerchr5:173035287..173036254hg19UCSC Ensembl
Outerchr5:173035138..173036427hg19UCSC Ensembl
Innerchr5:172967893..172968860hg18UCSC Ensembl
Outerchr5:172967744..172969033hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381290
hg191290
hg181290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4820122
SamplesNA18507
Known GenesBOD1
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)esv2145234
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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