A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691637



Internal ID13708905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54233964..54242586hg38UCSC Ensembl
Innerchr19:54234964..54241562hg38UCSC Ensembl
Outerchr19:54232964..54243592hg38UCSC Ensembl
chr19:54737840..54746438hg19UCSC Ensembl
Innerchr19:54738840..54745438hg19UCSC Ensembl
Outerchr19:54736840..54747438hg19UCSC Ensembl
chr19:59429652..59438250hg18UCSC Ensembl
Innerchr19:59430652..59437250hg18UCSC Ensembl
Outerchr19:59428652..59439250hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388623
hg198599
hg188599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3387039
Supporting Variants
SamplesNA12891
Known GenesLILRA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691637
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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