A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641497



Internal ID6681582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:551569..745897hg38UCSC Ensembl
chr18:551569..745897hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38194329
hg19194329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15772365, essv15772364
SamplesNA20896, NA20809
Known GenesC18orf56, CETN1, CLUL1, ENOSF1, TYMS, YES1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641497
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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