A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1953564



Internal ID591657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148082604..148082913hg38UCSC Ensembl
Outerchr5:148082429..148083102hg38UCSC Ensembl
Innerchr5:147462167..147462476hg19UCSC Ensembl
Outerchr5:147461992..147462665hg19UCSC Ensembl
Innerchr5:147442360..147442669hg18UCSC Ensembl
Outerchr5:147442185..147442858hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38674
hg19674
hg18674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4901323
SamplesNA18507
Known GenesSPINK5
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)esv1953564
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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