A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009627



Internal ID7059439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14947507..14948300hg38UCSC Ensembl
Outerchr4:14949131..14949924hg19UCSC Ensembl
Outerchr4:14558229..14559022hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg384314
hg194314
hg184314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564177
SamplesHuRef
Known GenesCPEB2-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009627
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