A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891469



Internal ID19185865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118379170..118426336hg38UCSC Ensembl
Outerchr8:118379170..118426336hg38UCSC Ensembl
Innerchr8:119391409..119438575hg19UCSC Ensembl
Outerchr8:119391409..119438575hg19UCSC Ensembl
Innerchr8:119460590..119507756hg18UCSC Ensembl
Outerchr8:119460590..119507756hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3847167
hg1947167
hg1847167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782605
Samples
Known GenesSAMD12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891469
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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