A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360048



Internal ID15207027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48749783..48752181hg38UCSC Ensembl
Innerchr18:48750783..48751181hg38UCSC Ensembl
Outerchr18:48748783..48753181hg38UCSC Ensembl
chr18:46276154..46278552hg19UCSC Ensembl
Innerchr18:46277154..46277552hg19UCSC Ensembl
Outerchr18:46275154..46279552hg19UCSC Ensembl
chr18:44530152..44532550hg18UCSC Ensembl
Innerchr18:44531152..44531550hg18UCSC Ensembl
Outerchr18:44529152..44533550hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691224
SamplesNA19239
Known GenesCTIF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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