A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553955



Internal ID18408345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24829708..24830264hg38UCSC Ensembl
Outerchr2:24829669..24830311hg38UCSC Ensembl
Innerchr2:25052577..25053133hg19UCSC Ensembl
Outerchr2:25052538..25053180hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752702
Samples
Known GenesADCY3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553955
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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