A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4788013



Internal ID7373645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57332400..57333204hg38UCSC Ensembl
Outerchr16:57332211..57333394hg38UCSC Ensembl
Innerchr16:57366312..57367116hg19UCSC Ensembl
Outerchr16:57366123..57367306hg19UCSC Ensembl
Innerchr16:55923813..55924617hg18UCSC Ensembl
Outerchr16:55923624..55924807hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1964798
Supporting Variants
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)essv4788013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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