A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792694



Internal ID18830837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68641143..68863126hg38UCSC Ensembl
Innerchr18:66308380..66530363hg19UCSC Ensembl
Innerchr18:64459360..64681343hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38221984
hg19221984
hg18221984
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893127
Supporting Variants
Samples
Known GenesCCDC102B, TMX3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792694
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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