A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586383



Internal ID7057765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125084201..125084785hg38UCSC Ensembl
Innerchr3:124803045..124803629hg19UCSC Ensembl
Innerchr3:126285735..126286319hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990342
Supporting Variants
SamplesHuRef
Known GenesSLC12A8
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586383
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