A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672452



Internal ID9591871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36455547..36457626hg38UCSC Ensembl
chr18:34035510..34037589hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg382080
hg192080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5979735, essv5497423, essv6488710, essv6411508, essv6201673, essv5972603
SamplesNA18511, NA19914, NA18856, NA19429, NA19440, NA19346
Known GenesFHOD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672452
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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