A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2420435



Internal ID8091546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:40312819..40317323hg38UCSC Ensembl
Outerchr11:40312643..40317519hg38UCSC Ensembl
Innerchr11:40334369..40338873hg19UCSC Ensembl
Outerchr11:40334193..40339069hg19UCSC Ensembl
Innerchr11:40290945..40295449hg18UCSC Ensembl
Outerchr11:40290769..40295645hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg384877
hg194877
hg184877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4983806
SamplesNA18507
Known GenesLRRC4C
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)esv2420435
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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