A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792680



Internal ID19162996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43061086..43484138hg38UCSC Ensembl
Innerchr14:43530289..43953341hg19UCSC Ensembl
Innerchr14:42600039..43023091hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38423053
hg19423053
hg18423053
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892523
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=57
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792680
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