A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554286



Internal ID18755362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28692302..28692933hg38UCSC Ensembl
Outerchr17:28692217..28693099hg38UCSC Ensembl
Innerchr17:27019320..27019951hg19UCSC Ensembl
Outerchr17:27019235..27020117hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753033
Samples
Known GenesSUPT6H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554286
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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