A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554598



Internal ID18408988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57939221..57939483hg38UCSC Ensembl
Outerchr17:57939186..57939510hg38UCSC Ensembl
Innerchr17:56016582..56016844hg19UCSC Ensembl
Outerchr17:56016547..56016871hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753345
Samples
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554598
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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