A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694766



Internal ID15047417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43094793..43096791hg38UCSC Ensembl
Innerchr5:43095791..43095793hg38UCSC Ensembl
Outerchr5:43093793..43097791hg38UCSC Ensembl
chr5:43094895..43096893hg19UCSC Ensembl
Innerchr5:43095893..43095895hg19UCSC Ensembl
Outerchr5:43093895..43097893hg19UCSC Ensembl
chr5:43130652..43132650hg18UCSC Ensembl
Innerchr5:43131652..43131650hg18UCSC Ensembl
Outerchr5:43129652..43133650hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449037
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694766
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