A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398010



Internal ID15244973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81614246..81615944hg38UCSC Ensembl
Innerchr16:81614944..81615246hg38UCSC Ensembl
Outerchr16:81613246..81616944hg38UCSC Ensembl
chr16:81647851..81649549hg19UCSC Ensembl
Innerchr16:81648549..81648851hg19UCSC Ensembl
Outerchr16:81646851..81650549hg19UCSC Ensembl
chr16:80205352..80207050hg18UCSC Ensembl
Innerchr16:80206352..80206050hg18UCSC Ensembl
Outerchr16:80204352..80208050hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1645e59
Supporting Variantsessv8690443
SamplesNA19240
Known GenesCMIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398010
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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