A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893100



Internal ID18837234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:45542509..45858191hg38UCSC Ensembl
Outerchr18:45542509..45858191hg38UCSC Ensembl
Innerchr18:43122474..43438156hg19UCSC Ensembl
Outerchr18:43122474..43438156hg19UCSC Ensembl
Innerchr18:41376472..41692154hg18UCSC Ensembl
Outerchr18:41376472..41692154hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38315683
hg19315683
hg18315683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790832
Samples
Known GenesEPG5, SIGLEC15, SLC14A1, SLC14A2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893100
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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