A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554827



Internal ID18409217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78455109..78455517hg38UCSC Ensembl
Outerchr17:78455097..78455571hg38UCSC Ensembl
Innerchr17:76451191..76451599hg19UCSC Ensembl
Outerchr17:76451179..76451653hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753574
Samples
Known GenesDNAH17
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554827
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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