A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788571



Internal ID18836056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12823268hg38UCSC Ensembl
Innerchr1:12860749..12883131hg19UCSC Ensembl
Innerchr1:12783336..12805718hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3822668
hg1922383
hg1822383
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891303
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788571
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