A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554109



Internal ID18408499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8810108..8811735hg38UCSC Ensembl
Outerchr17:8810045..8812049hg38UCSC Ensembl
Innerchr17:8713426..8715053hg19UCSC Ensembl
Outerchr17:8713363..8715367hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752856
Samples
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554109
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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