A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4837746



Internal ID7076692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179214091..179214283hg38UCSC Ensembl
Outerchr5:179213946..179214429hg38UCSC Ensembl
Innerchr5:178641092..178641284hg19UCSC Ensembl
Outerchr5:178640947..178641430hg19UCSC Ensembl
Innerchr5:178573698..178573890hg18UCSC Ensembl
Outerchr5:178573553..178574036hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38484
hg19484
hg18484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2007859
Supporting Variants
SamplesNA18507
Known GenesADAMTS2
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)essv4837746
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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