A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8948277



Internal ID14508012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51449637..51449650hg38UCSC Ensembl
Innerchr10:51449636..51449651hg38UCSC Ensembl
Outerchr10:51449623..51449664hg38UCSC Ensembl
chr10:53209397..53209410hg19UCSC Ensembl
Innerchr10:53209396..53209411hg19UCSC Ensembl
Outerchr10:53209383..53209424hg19UCSC Ensembl
chr10:52879403..52879416hg18UCSC Ensembl
Innerchr10:52879417..52879402hg18UCSC Ensembl
Outerchr10:52879389..52879430hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370541
Supporting Variants
SamplesNA19108
Known GenesPRKG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8948277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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