A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363182



Internal ID15210160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6131741..6133939hg38UCSC Ensembl
Innerchr19:6132741..6132939hg38UCSC Ensembl
Outerchr19:6130741..6134939hg38UCSC Ensembl
chr19:6131752..6133950hg19UCSC Ensembl
Innerchr19:6132752..6132950hg19UCSC Ensembl
Outerchr19:6130752..6134950hg19UCSC Ensembl
chr19:6082752..6084950hg18UCSC Ensembl
Innerchr19:6083752..6083950hg18UCSC Ensembl
Outerchr19:6081752..6085950hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1982e59
Supporting Variantsessv8691648
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363182
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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