A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2153018



Internal ID7477443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42569512..42569540hg38UCSC Ensembl
Outerchr21:42569316..42569743hg38UCSC Ensembl
Innerchr21:43989622..43989650hg19UCSC Ensembl
Outerchr21:43989426..43989853hg19UCSC Ensembl
Innerchr21:42862691..42862719hg18UCSC Ensembl
Outerchr21:42862495..42862922hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38428
hg19428
hg18428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4947015
SamplesNA18507
Known GenesSLC37A1
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)esv2153018
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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