A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793057



Internal ID18835064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2489783..2877249hg38UCSC Ensembl
Innerchr8:2346899..2734771hg19UCSC Ensembl
Innerchr8:2334306..2722178hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38387467
hg19387873
hg18387873
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891260
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=131
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793057
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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