A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691647



Internal ID15063954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6131241..6133739hg38UCSC Ensembl
Innerchr19:6132241..6132739hg38UCSC Ensembl
Outerchr19:6130241..6134739hg38UCSC Ensembl
chr19:6131252..6133750hg19UCSC Ensembl
Innerchr19:6132252..6132750hg19UCSC Ensembl
Outerchr19:6130252..6134750hg19UCSC Ensembl
chr19:6082252..6084750hg18UCSC Ensembl
Innerchr19:6083252..6083750hg18UCSC Ensembl
Outerchr19:6081252..6085750hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3397901
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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