A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4517824



Internal ID6756770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:131789346..131789642hg38UCSC Ensembl
Outerchr11:131789266..131789705hg38UCSC Ensembl
Innerchr11:131659240..131659536hg19UCSC Ensembl
Outerchr11:131659160..131659599hg19UCSC Ensembl
Innerchr11:131164450..131164746hg18UCSC Ensembl
Outerchr11:131164370..131164809hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38440
hg19440
hg18440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2141370
Supporting Variants
SamplesNA18507
Known GenesNTM
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)essv4517824
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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