A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764678



Internal ID18738924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55612770..55615144hg38UCSC Ensembl
Outerchr5:55612740..55615216hg38UCSC Ensembl
Innerchr5:54908598..54910972hg19UCSC Ensembl
Outerchr5:54908568..54911044hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565931
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764678
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