A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586329



Internal ID7057711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43904332..43906679hg38UCSC Ensembl
Innerchr1:44370004..44372351hg19UCSC Ensembl
Innerchr1:44142591..44144938hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382348
hg192348
hg182348
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002363
Supporting Variants
SamplesHuRef
Known GenesST3GAL3
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586329
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