A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386415



Internal ID14886697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30284530..30292728hg38UCSC Ensembl
Innerchr16:30285530..30291728hg38UCSC Ensembl
Outerchr16:30283530..30293728hg38UCSC Ensembl
chr16:30295851..30304049hg19UCSC Ensembl
Innerchr16:30296851..30303049hg19UCSC Ensembl
Outerchr16:30294851..30305049hg19UCSC Ensembl
chr16:30203352..30211550hg18UCSC Ensembl
Innerchr16:30204352..30210550hg18UCSC Ensembl
Outerchr16:30202352..30212550hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388199
hg198199
hg188199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689962
SamplesNA19239
Known GenesLOC440354, LOC595101
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386415
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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