A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2375105



Internal ID8046216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:59003988..59004144hg38UCSC Ensembl
Outerchr16:59003822..59004297hg38UCSC Ensembl
Innerchr16:59037892..59038048hg19UCSC Ensembl
Outerchr16:59037726..59038201hg19UCSC Ensembl
Innerchr16:57595393..57595549hg18UCSC Ensembl
Outerchr16:57595227..57595702hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38476
hg19476
hg18476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4890915
SamplesNA18507
Known Genes
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)esv2375105
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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