A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642246



Internal ID6682327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37522748..37536604hg38UCSC Ensembl
chr18:35102711..35116567hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3813857
hg1913857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842498, essv15842497
SamplesHG02156, HG02219
Known GenesCELF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642246
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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