A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998188



Internal ID7081591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47032741..47033895hg38UCSC Ensembl
Innerchr18:44559112..44560266hg19UCSC Ensembl
Innerchr18:42813110..42814264hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381155
hg191155
hg181155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586863
SamplesHuRef
Known GenesKATNAL2, TCEB3B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998188
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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