A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999444



Internal ID7064963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13912059..13915762hg38UCSC Ensembl
Outerchr20:13892705..13896408hg19UCSC Ensembl
Outerchr20:13840705..13844408hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382917
hg192917
hg182917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563493
SamplesHuRef
Known GenesSEL1L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999444
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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