A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691513



Internal ID15106596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:87452..107750hg38UCSC Ensembl
Innerchr19:88452..106750hg38UCSC Ensembl
Outerchr19:86452..108750hg38UCSC Ensembl
chr19:87452..107750hg19UCSC Ensembl
Innerchr19:88452..106750hg19UCSC Ensembl
Outerchr19:86452..108750hg19UCSC Ensembl
chr19:38452..58750hg18UCSC Ensembl
Innerchr19:39452..57750hg18UCSC Ensembl
Outerchr19:37452..59750hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820299
hg1920299
hg1820299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3386343
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691513
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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