A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1927773



Internal ID7244451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13829898..13829932hg38UCSC Ensembl
Outerchr5:13829709..13830114hg38UCSC Ensembl
Innerchr5:13830007..13830041hg19UCSC Ensembl
Outerchr5:13829818..13830223hg19UCSC Ensembl
Innerchr5:13883007..13883041hg18UCSC Ensembl
Outerchr5:13882818..13883223hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38406
hg19406
hg18406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4594676
SamplesNA18507
Known GenesDNAH5
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)esv1927773
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