A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753349



Internal ID18380909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58386089..58386344hg38UCSC Ensembl
Outerchr17:58386063..58386393hg38UCSC Ensembl
Innerchr17:56463450..56463705hg19UCSC Ensembl
Outerchr17:56463424..56463754hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554602
Supporting Variants
Samples
Known GenesRNF43
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753349
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer