A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696516



Internal ID15058188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121806552..121807750hg38UCSC Ensembl
Innerchr9:121806750..121807552hg38UCSC Ensembl
Outerchr9:121805552..121808750hg38UCSC Ensembl
chr9:124568831..124570029hg19UCSC Ensembl
Innerchr9:124569029..124569831hg19UCSC Ensembl
Outerchr9:124567831..124571029hg19UCSC Ensembl
chr9:123608652..123609850hg18UCSC Ensembl
Innerchr9:123609652..123608850hg18UCSC Ensembl
Outerchr9:123607652..123610850hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431475
Supporting Variants
SamplesNA19239
Known GenesMIR548AA1, MIR548D1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696516
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