A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893063



Internal ID18837197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2306414..2819763hg38UCSC Ensembl
Outerchr18:2306414..2819763hg38UCSC Ensembl
Innerchr18:2306413..2819761hg19UCSC Ensembl
Outerchr18:2306413..2819761hg19UCSC Ensembl
Innerchr18:2296413..2809761hg18UCSC Ensembl
Outerchr18:2296413..2809761hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38513350
hg19513349
hg18513349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781197
Samples
Known GenesCBX3P2, METTL4, NDC80, SMCHD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893063
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