A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579360



Internal ID6704056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423638..31423638hg38UCSC Ensembl
chr18:29003601..29003601hg19UCSC Ensembl
chr18:27257599..27257599hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38186
hg19186
hg18186
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991672
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579360
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