A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996767



Internal ID6732711
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586291
SamplesHuRef
Known GenesAKT3
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996767
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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