A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554304



Internal ID18408694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30385351..30385580hg38UCSC Ensembl
Outerchr17:30385321..30385629hg38UCSC Ensembl
Innerchr17:28712369..28712598hg19UCSC Ensembl
Outerchr17:28712339..28712647hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753051
Samples
Known GenesCPD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554304
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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