A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1270380



Internal ID12433504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125780987..125780987hg38UCSC Ensembl
chr9:128543266..128543266hg19UCSC Ensembl
chr9:127583087..127583087hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3867887
SamplesHuRef
Known GenesPBX3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1270380
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