A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981316



Internal ID12973163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78656278..78752308hg38UCSC Ensembl
Innerchr18:76416278..76512308hg19UCSC Ensembl
Innerchr18:74517266..74613296hg18UCSC Ensembl
Innerchr18:74517266..74613296hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3896031
hg1996031
hg1896031
hg1796031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751780
Supporting Variants
SamplesBEC_385
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981316
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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