A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323795



Internal ID14824076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52102649..52102673hg38UCSC Ensembl
Innerchr10:52102652..52102667hg38UCSC Ensembl
Outerchr10:52102628..52102694hg38UCSC Ensembl
chr10:53862409..53862433hg19UCSC Ensembl
Innerchr10:53862412..53862427hg19UCSC Ensembl
Outerchr10:53862388..53862454hg19UCSC Ensembl
chr10:53532415..53532439hg18UCSC Ensembl
Innerchr10:53532433..53532418hg18UCSC Ensembl
Outerchr10:53532394..53532460hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8948286, essv8948290, essv8948281, essv8948285, essv8948282, essv8948283, essv8948287, essv8948289, essv8948284, essv8948278, essv8948279, essv8948288
SamplesNA12750, NA10847, NA18603, NA19147, NA12763, NA11994, NA07357, NA12144, NA19190, NA19129, NA10851, NA11992
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323795
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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