A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790770



Internal ID18835847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41680652..42201288hg38UCSC Ensembl
Innerchr18:39260616..39781253hg19UCSC Ensembl
Innerchr18:37514614..38035251hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38520637
hg19520638
hg18520638
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893097
Supporting Variants
Samples
Known GenesLINC00907, PIK3C3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=93
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790770
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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