A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442105



Internal ID15289058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6521682..6521726hg38UCSC Ensembl
Innerchr18:6521703..6521703hg38UCSC Ensembl
Outerchr18:6521659..6521747hg38UCSC Ensembl
chr18:6521681..6521725hg19UCSC Ensembl
Innerchr18:6521702..6521702hg19UCSC Ensembl
Outerchr18:6521658..6521746hg19UCSC Ensembl
chr18:6511681..6511725hg18UCSC Ensembl
Innerchr18:6511702..6511702hg18UCSC Ensembl
Outerchr18:6511658..6511746hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8972906, essv8972908, essv8972909, essv8972905, essv8972904, essv8972907, essv8972902, essv8972900, essv8972910, essv8972901
SamplesNA18947, NA12751, NA12004, NA18571, NA18638, NA12489, NA18537, NA18573, NA18945, NA18952
Known GenesC18orf64
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442105
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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