A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783612



Internal ID18827624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31384800..31429446hg38UCSC Ensembl
Innerchr18:28964763..29009409hg19UCSC Ensembl
Innerchr18:27218761..27263407hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3844647
hg1944647
hg1844647
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893085
Supporting Variants
Samples
Known GenesDSG4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783612
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