A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995201



Internal ID7079624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38460196..38464918hg38UCSC Ensembl
Outerchr20:37088839..37093561hg19UCSC Ensembl
Outerchr20:36522253..36526975hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg383284
hg193284
hg183284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565643
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995201
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer