A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891402



Internal ID19185798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58582153..58620147hg38UCSC Ensembl
Outerchr8:58582153..58620147hg38UCSC Ensembl
Innerchr8:59494712..59532706hg19UCSC Ensembl
Outerchr8:59494712..59532706hg19UCSC Ensembl
Innerchr8:59657266..59695260hg18UCSC Ensembl
Outerchr8:59657266..59695260hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3837995
hg1937995
hg1837995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788106
Samples
Known GenesNSMAF, SDCBP
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891402
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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