A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002363



Internal ID7067479
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586329
SamplesHuRef
Known GenesST3GAL3
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002363
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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