A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842422



Internal ID5844238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36224889..36230256hg38UCSC Ensembl
chr18:33804852..33810219hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642219
Supporting Variants
SamplesHG00189
Known GenesMOCOS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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