A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1995159



Internal ID7319584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89725057..89725235hg38UCSC Ensembl
Outerchr16:89724907..89725360hg38UCSC Ensembl
Innerchr16:89791465..89791643hg19UCSC Ensembl
Outerchr16:89791315..89791768hg19UCSC Ensembl
Innerchr16:88318966..88319144hg18UCSC Ensembl
Outerchr16:88318816..88319269hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38454
hg19454
hg18454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4693259
SamplesNA18507
Known GenesZNF276
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)esv1995159
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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