A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2411772



Internal ID7736199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12380182..12380801hg38UCSC Ensembl
Outerchr11:12379991..12381011hg38UCSC Ensembl
Innerchr11:12401729..12402348hg19UCSC Ensembl
Outerchr11:12401538..12402558hg19UCSC Ensembl
Innerchr11:12358305..12358924hg18UCSC Ensembl
Outerchr11:12358114..12359134hg18UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381021
hg191021
hg181021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4656436
SamplesNA18507
Known GenesPARVA
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)esv2411772
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