A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891394



Internal ID19185790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52484017..52588725hg38UCSC Ensembl
Outerchr8:52451377..52598090hg38UCSC Ensembl
Innerchr8:53396577..53501285hg19UCSC Ensembl
Outerchr8:53363937..53510650hg19UCSC Ensembl
Innerchr8:53559130..53663838hg18UCSC Ensembl
Outerchr8:53526490..53673203hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38146714
hg19146714
hg18146714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788309, essv25792115, essv25788026, essv25787884
Samples
Known GenesFAM150A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891394
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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