A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789972



Internal ID19181289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101589980..101905574hg38UCSC Ensembl
Innerchr5:100925684..101241278hg19UCSC Ensembl
Innerchr5:100953583..101269177hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38315595
hg19315595
hg18315595
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890684
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=69
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789972
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer