A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310001



Internal ID15156952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128276983..128276984hg38UCSC Ensembl
Innerchr10:128276850..128277117hg38UCSC Ensembl
Outerchr10:128276849..128277118hg38UCSC Ensembl
chr10:130075247..130075248hg19UCSC Ensembl
Innerchr10:130075114..130075381hg19UCSC Ensembl
Outerchr10:130075113..130075382hg19UCSC Ensembl
chr10:129965237..129965238hg18UCSC Ensembl
Innerchr10:129965371..129965104hg18UCSC Ensembl
Outerchr10:129965103..129965372hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839043, essv7837290
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310001
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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