A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990152



Internal ID7061395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64364414..64371927hg38UCSC Ensembl
Outerchr17:59795514..59798749hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg384760
hg184760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564203
SamplesHuRef
Known GenesPECAM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990152
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