A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564828



Internal ID7035928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:42006616..42016645hg38UCSC Ensembl
Outerchr18:39586580..39596609hg19UCSC Ensembl
Outerchr18:37840578..37850607hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3812218
hg1912218
hg1812218
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001271
Supporting Variants
SamplesHuRef
Known GenesPIK3C3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564828
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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