A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448603



Internal ID14948866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23200890..23202588hg38UCSC Ensembl
Innerchr18:23201588..23201890hg38UCSC Ensembl
Outerchr18:23199890..23203588hg38UCSC Ensembl
chr18:20780854..20782552hg19UCSC Ensembl
Innerchr18:20781552..20781854hg19UCSC Ensembl
Outerchr18:20779854..20783552hg19UCSC Ensembl
chr18:19034852..19036550hg18UCSC Ensembl
Innerchr18:19035852..19035550hg18UCSC Ensembl
Outerchr18:19033852..19037550hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691181
SamplesNA19239
Known GenesCABLES1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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