A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842498



Internal ID5844314
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642246
Supporting Variants
SamplesHG02219
Known GenesCELF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842498
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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