A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760863



Internal ID14149459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53649157..53649158hg38UCSC Ensembl
Innerchr16:53649010..53649305hg38UCSC Ensembl
Outerchr16:53649009..53649306hg38UCSC Ensembl
chr16:53683069..53683070hg19UCSC Ensembl
Innerchr16:53682922..53683217hg19UCSC Ensembl
Outerchr16:53682921..53683218hg19UCSC Ensembl
chr16:52240570..52240571hg18UCSC Ensembl
Innerchr16:52240718..52240423hg18UCSC Ensembl
Outerchr16:52240422..52240719hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303911
Supporting Variants
SamplesNA18570
Known GenesRPGRIP1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760863
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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