A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412507



Internal ID15259466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66338073..66338157hg38UCSC Ensembl
Innerchr17:66338088..66338140hg38UCSC Ensembl
Outerchr17:66338006..66338224hg38UCSC Ensembl
chr17:64334191..64334275hg19UCSC Ensembl
Innerchr17:64334206..64334258hg19UCSC Ensembl
Outerchr17:64334124..64334342hg19UCSC Ensembl
chr17:61764653..61764737hg18UCSC Ensembl
Innerchr17:61764720..61764668hg18UCSC Ensembl
Outerchr17:61764586..61764804hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673460
SamplesNA19238
Known GenesPRKCA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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