A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753157



Internal ID18727403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40144103..40146681hg38UCSC Ensembl
Outerchr17:40143816..40146744hg38UCSC Ensembl
Innerchr17:38300356..38302934hg19UCSC Ensembl
Outerchr17:38300069..38302997hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg382929
hg192929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554410
Supporting Variants
Samples
Known GenesCASC3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753157
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