A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8972105



Internal ID13905376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66338087..66338098hg38UCSC Ensembl
Innerchr17:66338084..66338101hg38UCSC Ensembl
Outerchr17:66338073..66338112hg38UCSC Ensembl
chr17:64334205..64334216hg19UCSC Ensembl
Innerchr17:64334202..64334219hg19UCSC Ensembl
Outerchr17:64334191..64334230hg19UCSC Ensembl
chr17:61764667..61764678hg18UCSC Ensembl
Innerchr17:61764681..61764664hg18UCSC Ensembl
Outerchr17:61764653..61764692hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392985
Supporting Variants
SamplesNA18522
Known GenesPRKCA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8972105
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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