A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742175



Internal ID18716421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42644108..42644361hg38UCSC Ensembl
Outerchr8:42644061..42644391hg38UCSC Ensembl
Innerchr8:42499251..42499504hg19UCSC Ensembl
Outerchr8:42499204..42499534hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543428
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742175
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