A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586291



Internal ID6710987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619448..243620563hg38UCSC Ensembl
Innerchr1:243782750..243783865hg19UCSC Ensembl
Innerchr1:241849373..241850488hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996767
Supporting Variants
SamplesHuRef
Known GenesAKT3
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586291
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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