A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2037799



Internal ID7362224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1173818..1173953hg38UCSC Ensembl
Outerchr16:1173673..1174106hg38UCSC Ensembl
Innerchr16:1223818..1223953hg19UCSC Ensembl
Outerchr16:1223673..1224106hg19UCSC Ensembl
Innerchr16:1163819..1163954hg18UCSC Ensembl
Outerchr16:1163674..1164107hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38434
hg19434
hg18434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4658928
SamplesNA18507
Known GenesCACNA1H
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)esv2037799
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