A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2367012



Internal ID8038123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:41796650..41797508hg38UCSC Ensembl
Outerchr11:41796508..41797641hg38UCSC Ensembl
Innerchr11:41818200..41819058hg19UCSC Ensembl
Outerchr11:41818058..41819191hg19UCSC Ensembl
Innerchr11:41774776..41775634hg18UCSC Ensembl
Outerchr11:41774634..41775767hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381134
hg191134
hg181134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4754932
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)esv2367012
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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