A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690451



Internal ID15098572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85589445..85590743hg38UCSC Ensembl
Innerchr16:85589743..85590445hg38UCSC Ensembl
Outerchr16:85588445..85591743hg38UCSC Ensembl
chr16:85623051..85624349hg19UCSC Ensembl
Innerchr16:85623349..85624051hg19UCSC Ensembl
Outerchr16:85622051..85625349hg19UCSC Ensembl
chr16:84180552..84181850hg18UCSC Ensembl
Innerchr16:84181552..84180850hg18UCSC Ensembl
Outerchr16:84179552..84182850hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446412
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690451
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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