A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643080



Internal ID7029849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:73212257..73362999hg38UCSC Ensembl
chr18:70879492..71030234hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38150743
hg19150743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15933545
SamplesNA20822
Known GenesLOC100505817, LOC400655
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643080
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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