A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348348



Internal ID14848613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29547930..29549128hg38UCSC Ensembl
Innerchr16:29548128..29548930hg38UCSC Ensembl
Outerchr16:29546930..29550128hg38UCSC Ensembl
chr16:29559251..29560449hg19UCSC Ensembl
Innerchr16:29559449..29560251hg19UCSC Ensembl
Outerchr16:29558251..29561449hg19UCSC Ensembl
chr16:29466752..29467950hg18UCSC Ensembl
Innerchr16:29467752..29466950hg18UCSC Ensembl
Outerchr16:29465752..29468950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689948
SamplesNA19239
Known GenesLOC440354
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348348
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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