A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7761538



Internal ID15012698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66338085..66338086hg38UCSC Ensembl
Innerchr17:66338048..66338123hg38UCSC Ensembl
Outerchr17:66338047..66338124hg38UCSC Ensembl
chr17:64334203..64334204hg19UCSC Ensembl
Innerchr17:64334166..64334241hg19UCSC Ensembl
Outerchr17:64334165..64334242hg19UCSC Ensembl
chr17:61764665..61764666hg18UCSC Ensembl
Innerchr17:61764703..61764628hg18UCSC Ensembl
Outerchr17:61764627..61764704hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303465
Supporting Variants
SamplesNA19238
Known GenesPRKCA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7761538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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