A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791448



Internal ID18813755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2316229..3270577hg38UCSC Ensembl
Innerchr8:2262284..3128099hg19UCSC Ensembl
Innerchr8:2249691..3115506hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38954349
hg19865816
hg18865816
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891261
Supporting Variants
Samples
Known GenesCSMD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=403
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791448
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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