A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642903



Internal ID6682983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67457986..67599133hg38UCSC Ensembl
chr18:65125223..65266370hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38141148
hg19141148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15920345
SamplesNA20875
Known GenesDSEL, LOC643542
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642903
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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