A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8948255



Internal ID13770039
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 StatusS
Merged Variantsesv3441130
Supporting Variants
SamplesNA18564
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8948255
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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