A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4697157



Internal ID6936103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83254964..83254993hg38UCSC Ensembl
Outerchr16:83254757..83255204hg38UCSC Ensembl
Innerchr16:83288569..83288598hg19UCSC Ensembl
Outerchr16:83288362..83288809hg19UCSC Ensembl
Innerchr16:81846070..81846099hg18UCSC Ensembl
Outerchr16:81845863..81846310hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38448
hg19448
hg18448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2286188
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)essv4697157
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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