A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1046865



Internal ID12209990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64371683..64371683hg38UCSC Ensembl
chr17:59798505..59798505hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg384281
hg184281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4043801
SamplesHuRef
Known GenesPECAM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1046865
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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