A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554510



Internal ID18755586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48827530..48829734hg38UCSC Ensembl
Outerchr17:48827139..48830254hg38UCSC Ensembl
Innerchr17:46904892..46907096hg19UCSC Ensembl
Outerchr17:46904501..46907616hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383116
hg193116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753257
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554510
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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