A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996876



Internal ID6732818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36457727..36463319hg38UCSC Ensembl
Outerchr18:34037690..34043282hg19UCSC Ensembl
Outerchr18:32291688..32297280hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384121
hg194121
hg184121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565494
SamplesHuRef
Known GenesFHOD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996876
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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