A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2125011



Internal ID7796122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4031865..4035819hg38UCSC Ensembl
Outerchr20:4031670..4036039hg38UCSC Ensembl
Innerchr20:4012512..4016466hg19UCSC Ensembl
Outerchr20:4012317..4016686hg19UCSC Ensembl
Innerchr20:3960512..3964466hg18UCSC Ensembl
Outerchr20:3960317..3964686hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384370
hg194370
hg184370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4885960
SamplesNA18507
Known Genes
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)esv2125011
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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