A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2184384



Internal ID7508809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173609345..173613138hg38UCSC Ensembl
Outerchr5:173609254..173613206hg38UCSC Ensembl
Innerchr5:173036348..173040141hg19UCSC Ensembl
Outerchr5:173036257..173040209hg19UCSC Ensembl
Innerchr5:172968954..172972747hg18UCSC Ensembl
Outerchr5:172968863..172972815hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383953
hg193953
hg183953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4553920
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)esv2184384
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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