A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688040



Internal ID15039887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:42215498..42219196hg38UCSC Ensembl
Innerchr10:42216498..42218196hg38UCSC Ensembl
Outerchr10:42214498..42220196hg38UCSC Ensembl
chr10:42710946..42714644hg19UCSC Ensembl
Innerchr10:42711946..42713644hg19UCSC Ensembl
Outerchr10:42709946..42715644hg19UCSC Ensembl
chr10:42030952..42034650hg18UCSC Ensembl
Innerchr10:42031952..42033650hg18UCSC Ensembl
Outerchr10:42029952..42035650hg18UCSC Ensembl
Cytoband10q11.1
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390535
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688040
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