A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641994



Internal ID7028765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24924558..24929120hg38UCSC Ensembl
chr18:22504522..22509084hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg384563
hg194563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15820560, essv15820561
SamplesHG03778, HG00362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641994
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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