A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789564



Internal ID18816471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98893993..99281515hg38UCSC Ensembl
Innerchr8:99906221..100293743hg19UCSC Ensembl
Innerchr8:99975397..100362919hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38387523
hg19387523
hg18387523
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891446
Supporting Variants
Samples
Known GenesOSR2, STK3, VPS13B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=43
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789564
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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