A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304879



Internal ID14805141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51303343..51303344hg38UCSC Ensembl
Innerchr10:51303318..51303369hg38UCSC Ensembl
Outerchr10:51303317..51303370hg38UCSC Ensembl
chr10:53063103..53063104hg19UCSC Ensembl
Innerchr10:53063078..53063129hg19UCSC Ensembl
Outerchr10:53063077..53063130hg19UCSC Ensembl
chr10:52733109..52733110hg18UCSC Ensembl
Innerchr10:52733135..52733084hg18UCSC Ensembl
Outerchr10:52733083..52733136hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740665, essv7744558, essv7748673, essv7757556, essv7741562, essv7753353, essv7745666, essv7749673, essv7756395, essv7754833, essv7746018, essv7761699, essv7742603, essv7744681, essv7756898
SamplesNA18861, NA19093, NA12776, NA07051, NA18912, NA19190, NA18537, NA18498, NA19238, NA18502, NA18564, NA12749, NA19099, NA19240, NA18555
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304879
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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