A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554407



Internal ID18755483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39902659..39903045hg38UCSC Ensembl
Outerchr17:39902607..39903111hg38UCSC Ensembl
Innerchr17:38058912..38059298hg19UCSC Ensembl
Outerchr17:38058860..38059364hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753154
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554407
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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