A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781197



Internal ID18818876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2306414..2819763hg38UCSC Ensembl
Innerchr18:2306413..2819761hg19UCSC Ensembl
Innerchr18:2296413..2809761hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38513350
hg19513349
hg18513349
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893063
Supporting Variants
Samples
Known GenesCBX3P2, METTL4, NDC80, SMCHD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=128
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781197
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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