A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396247



Internal ID15243211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59592235..59592254hg38UCSC Ensembl
Innerchr14:59592231..59592258hg38UCSC Ensembl
Outerchr14:59592212..59592277hg38UCSC Ensembl
chr14:60058953..60058972hg19UCSC Ensembl
Innerchr14:60058949..60058976hg19UCSC Ensembl
Outerchr14:60058930..60058995hg19UCSC Ensembl
chr14:59128706..59128725hg18UCSC Ensembl
Innerchr14:59128729..59128702hg18UCSC Ensembl
Outerchr14:59128683..59128748hg18UCSC Ensembl
Cytoband14q23.1
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 Variantsessv9666291
SamplesNA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396247
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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