A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1943808



Internal ID7268233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44659301..44659305hg38UCSC Ensembl
Outerchr21:44659082..44659550hg38UCSC Ensembl
Innerchr21:46079218..46079222hg19UCSC Ensembl
Outerchr21:46078999..46079467hg19UCSC Ensembl
Innerchr21:44903646..44903650hg18UCSC Ensembl
Outerchr21:44903427..44903895hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38469
hg19469
hg18469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4994407
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)esv1943808
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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