A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764470



Internal ID18738716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:27606394..27629061hg38UCSC Ensembl
Outerchr5:27605894..27633393hg38UCSC Ensembl
Innerchr5:27606501..27629168hg19UCSC Ensembl
Outerchr5:27606001..27633500hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3827500
hg1927500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565723
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764470
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