A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15820560



Internal ID765948
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641994
Supporting Variants
SamplesHG00362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15820560
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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