A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893086



Internal ID18837220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31623572..31852661hg38UCSC Ensembl
Outerchr18:31623572..31852661hg38UCSC Ensembl
Innerchr18:29203535..29432624hg19UCSC Ensembl
Outerchr18:29203535..29432624hg19UCSC Ensembl
Innerchr18:27457533..27686622hg18UCSC Ensembl
Outerchr18:27457533..27686622hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38229090
hg19229090
hg18229090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789727
Samples
Known GenesB4GALT6, SLC25A52, TRAPPC8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893086
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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