A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731456



Internal ID13627142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29622607..29622670hg38UCSC Ensembl
Innerchr19:29622638..29622639hg38UCSC Ensembl
Outerchr19:29622507..29622770hg38UCSC Ensembl
chr19:30113514..30113577hg19UCSC Ensembl
Innerchr19:30113545..30113546hg19UCSC Ensembl
Outerchr19:30113414..30113677hg19UCSC Ensembl
chr19:34805354..34805417hg18UCSC Ensembl
Innerchr19:34805386..34805385hg18UCSC Ensembl
Outerchr19:34805254..34805517hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302455
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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