A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553422



Internal ID18754498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20466964..20467189hg38UCSC Ensembl
Outerchr2:20466905..20467228hg38UCSC Ensembl
Innerchr2:20666725..20666950hg19UCSC Ensembl
Outerchr2:20666666..20666989hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv235e215
Supporting Variantsessv9752169
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553422
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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