A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790151



Internal ID18818792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151428994..151572020hg38UCSC Ensembl
Innerchr5:150808555..150951581hg19UCSC Ensembl
Innerchr5:150788748..150931774hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38143027
hg19143027
hg18143027
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890753
Supporting Variants
Samples
Known GenesFAT2, MIR6499, SLC36A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=61
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790151
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