A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443388



Internal ID14943655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80185678..80186776hg38UCSC Ensembl
Innerchr18:80185776..80186678hg38UCSC Ensembl
Outerchr18:80184678..80187776hg38UCSC Ensembl
chr18:77943561..77944659hg19UCSC Ensembl
Innerchr18:77943659..77944561hg19UCSC Ensembl
Outerchr18:77942561..77945659hg19UCSC Ensembl
chr18:76044552..76045650hg18UCSC Ensembl
Innerchr18:76045552..76044650hg18UCSC Ensembl
Outerchr18:76043552..76046650hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691384
SamplesNA19240
Known GenesPARD6G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443388
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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