A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891498



Internal ID19185894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144975559..145043035hg38UCSC Ensembl
Outerchr8:144958851..145068028hg38UCSC Ensembl
Innerchr8:146200945..146268421hg19UCSC Ensembl
Outerchr8:146184237..146293414hg19UCSC Ensembl
Innerchr8:146171749..146239225hg18UCSC Ensembl
Outerchr8:146155041..146264218hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788203, essv25791589, essv25788494, essv25790477, essv25788292, essv25791930, essv25792979, essv25788473, essv25789109, essv25788907, essv25788169
Samples
Known GenesC8orf33, TMED10P1, ZNF252P, ZNF252P-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891498
Frequency
Sample Size3017
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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