A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15855515



Internal ID2003597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41716967..41783335hg38UCSC Ensembl
chr18:39296931..39363300hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3866369
hg1966370
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642336
Supporting Variants
SamplesHG01852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15855515
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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