A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689958



Internal ID14709145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30239630..30253128hg38UCSC Ensembl
Innerchr16:30240630..30252128hg38UCSC Ensembl
Outerchr16:30238630..30254128hg38UCSC Ensembl
chr16:30250951..30264449hg19UCSC Ensembl
Innerchr16:30251951..30263449hg19UCSC Ensembl
Outerchr16:30249951..30265449hg19UCSC Ensembl
chr16:30158452..30171950hg18UCSC Ensembl
Innerchr16:30159452..30170950hg18UCSC Ensembl
Outerchr16:30157452..30172950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813499
hg1913499
hg1813499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350426
Supporting Variants
SamplesNA19239
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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