A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001271



Internal ID7066399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42006616..42016645hg38UCSC Ensembl
Outerchr18:39586580..39596609hg19UCSC Ensembl
Outerchr18:37840578..37850607hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3812218
hg1912218
hg1812218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564828
SamplesHuRef
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001271
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