A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978136



Internal ID12634806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36536338..36843747hg38UCSC Ensembl
Innerchr18:34116301..34423710hg19UCSC Ensembl
Innerchr18:32370299..32677708hg18UCSC Ensembl
Innerchr18:32370299..32677708hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38307410
hg19307410
hg18307410
hg17307410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34228
Supporting Variants
SamplesNA18971
Known GenesFHOD3, KIAA1328, TPGS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978136
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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