A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788732



Internal ID19180629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:27307284..27601387hg38UCSC Ensembl
Innerchr18:24887248..25181351hg19UCSC Ensembl
Innerchr18:23141246..23435349hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38294104
hg19294104
hg18294104
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893080
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=64
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788732
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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