A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560475



Internal ID18761551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165411059..165411291hg38UCSC Ensembl
Outerchr2:165410994..165411344hg38UCSC Ensembl
Innerchr2:166267569..166267801hg19UCSC Ensembl
Outerchr2:166267504..166267854hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759222
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560475
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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