A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367177



Internal ID15214153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17985253..17985272hg38UCSC Ensembl
Innerchr19:17985249..17985276hg38UCSC Ensembl
Outerchr19:17985230..17985295hg38UCSC Ensembl
chr19:18096062..18096081hg19UCSC Ensembl
Innerchr19:18096058..18096085hg19UCSC Ensembl
Outerchr19:18096039..18096104hg19UCSC Ensembl
chr19:17957062..17957081hg18UCSC Ensembl
Innerchr19:17957085..17957058hg18UCSC Ensembl
Outerchr19:17957039..17957104hg18UCSC Ensembl
Cytoband19p13.11
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 Variantsessv8678301
SamplesNA12878
Known GenesKCNN1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367177
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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