A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791501



Internal ID18832382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:37258377..37585496hg38UCSC Ensembl
Innerchr13:37832514..38159633hg19UCSC Ensembl
Innerchr13:36730514..37057633hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38327120
hg19327120
hg18327120
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892331
Supporting Variants
Samples
Known GenesLINC00547, POSTN
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=122
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791501
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