A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308601



Internal ID15155550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56255087..56255088hg38UCSC Ensembl
Innerchr16:56255065..56255110hg38UCSC Ensembl
Outerchr16:56255064..56255111hg38UCSC Ensembl
chr16:56288999..56289000hg19UCSC Ensembl
Innerchr16:56288977..56289022hg19UCSC Ensembl
Outerchr16:56288976..56289023hg19UCSC Ensembl
chr16:54846500..54846501hg18UCSC Ensembl
Innerchr16:54846523..54846478hg18UCSC Ensembl
Outerchr16:54846477..54846524hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38725
hg19725
hg18725
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839219
SamplesNA19240
Known GenesGNAO1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308601
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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