A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15837719



Internal ID5839535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31861323..31909098hg38UCSC Ensembl
chr18:29441286..29489061hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3847776
hg1947776
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642140
Supporting Variants
SamplesHG02292
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15837719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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