A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1917114



Internal ID7246969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44523098..44523226hg38UCSC Ensembl
Outerchr21:44522953..44523382hg38UCSC Ensembl
Innerchr21:45942981..45943109hg19UCSC Ensembl
Outerchr21:45942836..45943265hg19UCSC Ensembl
Innerchr21:44767409..44767537hg18UCSC Ensembl
Outerchr21:44767264..44767693hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38430
hg19430
hg18430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4603813
SamplesNA18507
Known GenesTSPEAR
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)esv1917114
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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