A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808829



Internal ID13299234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80073273..80073946hg38UCSC Ensembl
Innerchr18:80073272..80073947hg38UCSC Ensembl
Outerchr18:80072282..80074066hg38UCSC Ensembl
chr18:77831685..77832249hg19UCSC Ensembl
Innerchr18:77831684..77832250hg19UCSC Ensembl
Outerchr18:77831575..77832369hg19UCSC Ensembl
chr18:75932673..75933237hg18UCSC Ensembl
Innerchr18:75933238..75932672hg18UCSC Ensembl
Outerchr18:75932563..75933357hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38674
hg19565
hg18565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445979
Supporting Variants
SamplesNA12878
Known GenesRBFADN
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808829
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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