A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367435



Internal ID15214411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50323446..50323465hg38UCSC Ensembl
Innerchr18:50323442..50323469hg38UCSC Ensembl
Outerchr18:50323423..50323488hg38UCSC Ensembl
chr18:47849816..47849835hg19UCSC Ensembl
Innerchr18:47849812..47849839hg19UCSC Ensembl
Outerchr18:47849793..47849858hg19UCSC Ensembl
chr18:46103814..46103833hg18UCSC Ensembl
Innerchr18:46103837..46103810hg18UCSC Ensembl
Outerchr18:46103791..46103856hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678274
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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