A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790629



Internal ID19160891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18638122..18803539hg38UCSC Ensembl
Innerchr13:19212262..19377679hg19UCSC Ensembl
Innerchr13:18110262..18275679hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38165418
hg19165418
hg18165418
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892291
Supporting Variants
Samples
Known GenesLINC00417
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790629
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