A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005323



Internal ID7070419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91066183..91066864hg38UCSC Ensembl
Outerchr8:92078411..92079092hg19UCSC Ensembl
Outerchr8:92147587..92148268hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564964
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005323
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