A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4658233



Internal ID7243865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11332430..11332843hg38UCSC Ensembl
Innerchr10:11374607..11374625hg19UCSC Ensembl
Outerchr10:11374393..11374842hg19UCSC Ensembl
Innerchr10:11414613..11414631hg18UCSC Ensembl
Outerchr10:11414399..11414848hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38414
hg19450
hg18450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2043576
Supporting Variants
SamplesNA18507
Known GenesCELF2
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)essv4658233
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