A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789727



Internal ID18819398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31623572..31852661hg38UCSC Ensembl
Innerchr18:29203535..29432624hg19UCSC Ensembl
Innerchr18:27457533..27686622hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38229090
hg19229090
hg18229090
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893086
Supporting Variants
Samples
Known GenesB4GALT6, SLC25A52, TRAPPC8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789727
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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