A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891267



Internal ID18838977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1755403..2343278hg38UCSC Ensembl
Outerchr8:1755403..2343278hg38UCSC Ensembl
Innerchr8:1703569..2316868hg19UCSC Ensembl
Outerchr8:1703569..2316868hg19UCSC Ensembl
Innerchr8:1690976..2304275hg18UCSC Ensembl
Outerchr8:1690976..2304275hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38587876
hg19613300
hg18613300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790289
Samples
Known GenesARHGEF10, CLN8, KBTBD11, MIR596, MIR7160, MYOM2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891267
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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