A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322933



Internal ID14823214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29541030..29545628hg38UCSC Ensembl
Innerchr16:29542030..29544628hg38UCSC Ensembl
Outerchr16:29540030..29546628hg38UCSC Ensembl
chr16:29552351..29556949hg19UCSC Ensembl
Innerchr16:29553351..29555949hg19UCSC Ensembl
Outerchr16:29551351..29557949hg19UCSC Ensembl
chr16:29459852..29464450hg18UCSC Ensembl
Innerchr16:29460852..29463450hg18UCSC Ensembl
Outerchr16:29458852..29465450hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689947
SamplesNA19239
Known GenesLOC440354
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322933
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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