A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554300



Internal ID18755376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28874771..28881634hg38UCSC Ensembl
Outerchr2:28874635..28883134hg38UCSC Ensembl
Innerchr2:29097637..29104500hg19UCSC Ensembl
Outerchr2:29097501..29106000hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753047
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554300
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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