A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv189e215



Internal ID22785699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80355301..80355824hg38UCSC Ensembl
chr17:78329101..78329624hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3554854, esv3554856
Samples
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv189e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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