A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2200702



Internal ID7871813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:40311155..40311179hg38UCSC Ensembl
Outerchr20:40310953..40311384hg38UCSC Ensembl
Innerchr20:38939795..38939819hg19UCSC Ensembl
Outerchr20:38939593..38940024hg19UCSC Ensembl
Innerchr20:38373209..38373233hg18UCSC Ensembl
Outerchr20:38373007..38373438hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4713418
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)esv2200702
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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