A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652014



Internal ID14754494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18441961..18442706hg38UCSC Ensembl
Innerchr19:18441961..18442706hg38UCSC Ensembl
Outerchr19:18441188..18443672hg38UCSC Ensembl
chr19:18552771..18553516hg19UCSC Ensembl
Innerchr19:18552771..18553516hg19UCSC Ensembl
Outerchr19:18551998..18554482hg19UCSC Ensembl
chr19:18413771..18414516hg18UCSC Ensembl
Innerchr19:18413771..18414516hg18UCSC Ensembl
Outerchr19:18412998..18415482hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38746
hg19746
hg18746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401601
Supporting Variants
SamplesNA19240
Known GenesELL
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652014
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