A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689959



Internal ID14750002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30241830..30244328hg38UCSC Ensembl
Innerchr16:30242830..30243328hg38UCSC Ensembl
Outerchr16:30240830..30245328hg38UCSC Ensembl
chr16:30253151..30255649hg19UCSC Ensembl
Innerchr16:30254151..30254649hg19UCSC Ensembl
Outerchr16:30252151..30256649hg19UCSC Ensembl
chr16:30160652..30163150hg18UCSC Ensembl
Innerchr16:30161652..30162150hg18UCSC Ensembl
Outerchr16:30159652..30164150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446505
Supporting Variants
SamplesNA19240
Known GenesLOC613037
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689959
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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