A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441130



Internal ID14941397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51303342..51303347hg38UCSC Ensembl
Innerchr10:51303335..51303354hg38UCSC Ensembl
Outerchr10:51303330..51303359hg38UCSC Ensembl
chr10:53063102..53063107hg19UCSC Ensembl
Innerchr10:53063095..53063114hg19UCSC Ensembl
Outerchr10:53063090..53063119hg19UCSC Ensembl
chr10:52733108..52733113hg18UCSC Ensembl
Innerchr10:52733120..52733101hg18UCSC Ensembl
Outerchr10:52733096..52733125hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8948248, essv8948251, essv8948243, essv8948252, essv8948254, essv8948244, essv8948255, essv8948250, essv8948245, essv8948242, essv8948246, essv8948253, essv8948249
SamplesNA18502, NA18861, NA19190, NA18498, NA18537, NA18912, NA19099, NA18555, NA18564, NA07051, NA12749, NA19093, NA12776
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441130
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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