A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554793



Internal ID18409183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76283682..76284547hg38UCSC Ensembl
Outerchr17:76283592..76284630hg38UCSC Ensembl
Innerchr17:74279763..74280628hg19UCSC Ensembl
Outerchr17:74279673..74280711hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753540
Samples
Known GenesQRICH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554793
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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