A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554316



Internal ID18755392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31963393..31963747hg38UCSC Ensembl
Outerchr17:31963299..31963787hg38UCSC Ensembl
Innerchr17:30290412..30290766hg19UCSC Ensembl
Outerchr17:30290318..30290806hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753063
Samples
Known GenesSUZ12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554316
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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