A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554089



Internal ID18755165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7621175..7621594hg38UCSC Ensembl
Outerchr17:7621083..7621612hg38UCSC Ensembl
Innerchr17:7524493..7524912hg19UCSC Ensembl
Outerchr17:7524401..7524930hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752836
Samples
Known GenesSHBG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554089
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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