A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691650



Internal ID14760538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56404471..56405469hg38UCSC Ensembl
Innerchr19:56404470..56405470hg38UCSC Ensembl
Outerchr19:56403471..56406469hg38UCSC Ensembl
chr19:56915840..56916838hg19UCSC Ensembl
Innerchr19:56915839..56916839hg19UCSC Ensembl
Outerchr19:56914840..56917838hg19UCSC Ensembl
chr19:61607652..61608650hg18UCSC Ensembl
Innerchr19:61608651..61607651hg18UCSC Ensembl
Outerchr19:61606652..61609650hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389334
Supporting Variants
SamplesNA19240
Known GenesZNF583
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691650
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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