A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789023



Internal ID19173461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:293519..463146hg38UCSC Ensembl
Innerchr18:293519..463146hg19UCSC Ensembl
Innerchr18:283519..453146hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38169628
hg19169628
hg18169628
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893056
Supporting Variants
Samples
Known GenesCOLEC12
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=103
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789023
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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