A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2365778



Internal ID7690203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13200613..13202636hg38UCSC Ensembl
Outerchr16:13200440..13202815hg38UCSC Ensembl
Innerchr16:13294470..13296493hg19UCSC Ensembl
Outerchr16:13294297..13296672hg19UCSC Ensembl
Innerchr16:13201971..13203994hg18UCSC Ensembl
Outerchr16:13201798..13204173hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382376
hg192376
hg182376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4673574
SamplesNA18507
Known GenesSHISA9
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)esv2365778
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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