A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399504



Internal ID15246467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56255093..56255112hg38UCSC Ensembl
Innerchr16:56255089..56255116hg38UCSC Ensembl
Outerchr16:56255070..56255135hg38UCSC Ensembl
chr16:56289005..56289024hg19UCSC Ensembl
Innerchr16:56289001..56289028hg19UCSC Ensembl
Outerchr16:56288982..56289047hg19UCSC Ensembl
chr16:54846506..54846525hg18UCSC Ensembl
Innerchr16:54846529..54846502hg18UCSC Ensembl
Outerchr16:54846483..54846548hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678177
SamplesNA19240
Known GenesGNAO1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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