A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798205



Internal ID18831186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7142651..7185012hg38UCSC Ensembl
Innerchr16:7192652..7235013hg19UCSC Ensembl
Innerchr16:7132653..7175014hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3842362
hg1942362
hg1842362
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892774
Supporting Variants
Samples
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=33
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798205
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