A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2217569



Internal ID7541994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9955213..9955519hg38UCSC Ensembl
Outerchr4:9955029..9955710hg38UCSC Ensembl
Innerchr4:9956837..9957143hg19UCSC Ensembl
Outerchr4:9956653..9957334hg19UCSC Ensembl
Innerchr4:9565935..9566241hg18UCSC Ensembl
Outerchr4:9565751..9566432hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4855779
SamplesNA18507
Known GenesSLC2A9
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)esv2217569
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