A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997516



Internal ID6733458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138401314..138409524hg38UCSC Ensembl
Innerchr5:137737003..137745213hg19UCSC Ensembl
Innerchr5:137764902..137773112hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388211
hg198211
hg188211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586124
SamplesHuRef
Known GenesKDM3B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997516
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer