A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4555606



Internal ID6794552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83637252..83643311hg38UCSC Ensembl
Outerchr16:83637061..83643517hg38UCSC Ensembl
Innerchr16:83670857..83676916hg19UCSC Ensembl
Outerchr16:83670666..83677122hg19UCSC Ensembl
Innerchr16:82228358..82234417hg18UCSC Ensembl
Outerchr16:82228167..82234623hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386457
hg196457
hg186457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2112702
Supporting Variants
SamplesNA18507
Known GenesCDH13
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)essv4555606
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer