A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787826



Internal ID19160984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17633635..17678837hg38UCSC Ensembl
Innerchr8:17491144..17536346hg19UCSC Ensembl
Innerchr8:17535424..17580626hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3845203
hg1945203
hg1845203
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891364
Supporting Variants
Samples
Known GenesMTUS1, PDGFRL
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787826
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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