A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791159



Internal ID18835398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63799698..63849506hg38UCSC Ensembl
Innerchr18:61466932..61516740hg19UCSC Ensembl
Innerchr18:59617912..59667720hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3849809
hg1949809
hg1849809
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893113
Supporting Variants
Samples
Known GenesSERPINB7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791159
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