A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554698



Internal ID18409088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68552686..68552970hg38UCSC Ensembl
Outerchr17:68552616..68553020hg38UCSC Ensembl
Innerchr17:66548827..66549111hg19UCSC Ensembl
Outerchr17:66548757..66549161hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753445
Samples
Known GenesFAM20A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554698
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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