A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388855



Internal ID14889136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23853943..23854004hg38UCSC Ensembl
Innerchr16:23853964..23853983hg38UCSC Ensembl
Outerchr16:23853922..23854025hg38UCSC Ensembl
chr16:23865264..23865325hg19UCSC Ensembl
Innerchr16:23865285..23865304hg19UCSC Ensembl
Outerchr16:23865243..23865346hg19UCSC Ensembl
chr16:23772765..23772826hg18UCSC Ensembl
Innerchr16:23772786..23772805hg18UCSC Ensembl
Outerchr16:23772744..23772847hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673311, essv8673310, essv8673308
SamplesNA19238, NA12891, NA12878
Known GenesPRKCB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388855
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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