A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2319677



Internal ID7644102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149192783..149192906hg38UCSC Ensembl
Outerchr5:149192638..149193070hg38UCSC Ensembl
Innerchr5:148572346..148572469hg19UCSC Ensembl
Outerchr5:148572201..148572633hg19UCSC Ensembl
Innerchr5:148552539..148552662hg18UCSC Ensembl
Outerchr5:148552394..148552826hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38433
hg19433
hg18433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4920395
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)esv2319677
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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