A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349569



Internal ID15196551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55670310..55670537hg38UCSC Ensembl
Innerchr19:55670310..55670537hg38UCSC Ensembl
Outerchr19:55668594..55671425hg38UCSC Ensembl
chr19:56181676..56181903hg19UCSC Ensembl
Innerchr19:56181676..56181903hg19UCSC Ensembl
Outerchr19:56179960..56182791hg19UCSC Ensembl
chr19:60873488..60873715hg18UCSC Ensembl
Innerchr19:60873488..60873715hg18UCSC Ensembl
Outerchr19:60871772..60874603hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652028
SamplesNA19240
Known GenesU2AF2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349569
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