A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554829



Internal ID18409219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78509052..78509220hg38UCSC Ensembl
Outerchr17:78509045..78509229hg38UCSC Ensembl
Innerchr17:76505134..76505302hg19UCSC Ensembl
Outerchr17:76505127..76505311hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753576
Samples
Known GenesDNAH17
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554829
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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