A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642279



Internal ID7029049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39553391..39599929hg38UCSC Ensembl
chr18:37133355..37179893hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3846539
hg1946539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15846808
SamplesNA20503
Known GenesLINC00669
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642279
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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