A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2104024



Internal ID7775135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101499670..101500095hg38UCSC Ensembl
Outerchr11:101499626..101500157hg38UCSC Ensembl
Innerchr11:101370401..101370826hg19UCSC Ensembl
Outerchr11:101370357..101370888hg19UCSC Ensembl
Innerchr11:100875611..100876036hg18UCSC Ensembl
Outerchr11:100875567..100876098hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4587601
SamplesNA18507
Known GenesTRPC6
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)esv2104024
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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