A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005031



Internal ID7070127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12412163..12419807hg38UCSC Ensembl
Innerchr8:12269672..12277316hg19UCSC Ensembl
Innerchr8:12314043..12321687hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387645
hg197645
hg187645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586588
SamplesHuRef
Known GenesFAM90A25P
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005031
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