A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549766



Internal ID18404156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619608..243620382hg38UCSC Ensembl
Outerchr1:243619386..243620589hg38UCSC Ensembl
Innerchr1:243782910..243783684hg19UCSC Ensembl
Outerchr1:243782688..243783891hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748513
Samples
Known GenesAKT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549766
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer