A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790988



Internal ID19177559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7491637..7877729hg38UCSC Ensembl
Innerchr7:7531268..7917360hg19UCSC Ensembl
Innerchr7:7497793..7883885hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38386093
hg19386093
hg18386093
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891036
Supporting Variants
Samples
Known GenesCOL28A1, MIOS, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=191
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790988
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