A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642452



Internal ID6682533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47093035..47161369hg38UCSC Ensembl
chr18:44619406..44687740hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3868335
hg1968335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15858047
SamplesHG02420
Known GenesHDHD2, IER3IP1, KATNAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642452
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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