A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782983



Internal ID19174957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120851124..120940372hg38UCSC Ensembl
Innerchr5:120186819..120276067hg19UCSC Ensembl
Innerchr5:120214718..120303966hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3889249
hg1989249
hg1889249
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890727
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782983
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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