A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2195896



Internal ID7520321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:133231943..133231968hg38UCSC Ensembl
Outerchr11:133231733..133232179hg38UCSC Ensembl
Innerchr11:133101838..133101863hg19UCSC Ensembl
Outerchr11:133101628..133102074hg19UCSC Ensembl
Innerchr11:132607048..132607073hg18UCSC Ensembl
Outerchr11:132606838..132607284hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4926507
SamplesNA18507
Known GenesOPCML
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)esv2195896
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