A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790289



Internal ID18824248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1755403..2343278hg38UCSC Ensembl
Innerchr8:1703569..2316868hg19UCSC Ensembl
Innerchr8:1690976..2304275hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38587876
hg19613300
hg18613300
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891267
Supporting Variants
Samples
Known GenesARHGEF10, CLN8, KBTBD11, MIR596, MIR7160, MYOM2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=306
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790289
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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