A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554856



Internal ID18755932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80355381..80355762hg38UCSC Ensembl
Outerchr17:80355315..80355824hg38UCSC Ensembl
Innerchr17:78329181..78329562hg19UCSC Ensembl
Outerchr17:78329115..78329624hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189e215
Supporting Variantsessv9753603
Samples
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554856
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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