A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978138



Internal ID12634810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36536339..36843739hg38UCSC Ensembl
Innerchr18:34116302..34423702hg19UCSC Ensembl
Innerchr18:32370300..32677700hg18UCSC Ensembl
Innerchr18:32370300..32677700hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38307401
hg19307401
hg18307401
hg17307401
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)essv6978138
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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