A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349698



Internal ID15196680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53649143..53649289hg38UCSC Ensembl
Innerchr16:53649211..53649219hg38UCSC Ensembl
Outerchr16:53649065..53649367hg38UCSC Ensembl
chr16:53683055..53683201hg19UCSC Ensembl
Innerchr16:53683123..53683131hg19UCSC Ensembl
Outerchr16:53682977..53683279hg19UCSC Ensembl
chr16:52240556..52240702hg18UCSC Ensembl
Innerchr16:52240632..52240624hg18UCSC Ensembl
Outerchr16:52240478..52240780hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970221, essv8970222
SamplesNA18510, NA18570
Known GenesRPGRIP1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349698
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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