A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2399145



Internal ID7723570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16003191..16003398hg38UCSC Ensembl
Outerchr16:16003085..16003517hg38UCSC Ensembl
Innerchr16:16097048..16097255hg19UCSC Ensembl
Outerchr16:16096942..16097374hg19UCSC Ensembl
Innerchr16:16004549..16004756hg18UCSC Ensembl
Outerchr16:16004443..16004875hg18UCSC Ensembl
Cytoband16p13.11
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 Variantsessv4844513
SamplesNA18507
Known GenesABCC1
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)esv2399145
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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