A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2146341



Internal ID7817455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:37645099..37645388hg38UCSC Ensembl
Outerchr11:37644887..37645588hg38UCSC Ensembl
Innerchr11:37666649..37666938hg19UCSC Ensembl
Outerchr11:37666437..37667138hg19UCSC Ensembl
Innerchr11:37623225..37623514hg18UCSC Ensembl
Outerchr11:37623013..37623714hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4769719
SamplesNA18507
Known Genes
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)esv2146341
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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