A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642193



Internal ID6682274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34983268..34997562hg38UCSC Ensembl
chr18:32563232..32577526hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3814295
hg1914295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842004
SamplesHG00698
Known GenesMAPRE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642193
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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