A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433647



Internal ID15280602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39550528..39550537hg38UCSC Ensembl
Innerchr19:39550530..39550535hg38UCSC Ensembl
Outerchr19:39550526..39550539hg38UCSC Ensembl
chr19:40041168..40041177hg19UCSC Ensembl
Innerchr19:40041170..40041175hg19UCSC Ensembl
Outerchr19:40041166..40041179hg19UCSC Ensembl
chr19:44733008..44733017hg18UCSC Ensembl
Innerchr19:44733010..44733015hg18UCSC Ensembl
Outerchr19:44733006..44733019hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866110
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer