A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690480



Internal ID15099778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88379943..88381641hg38UCSC Ensembl
Innerchr16:88380641..88380943hg38UCSC Ensembl
Outerchr16:88378943..88382641hg38UCSC Ensembl
chr16:88446351..88448049hg19UCSC Ensembl
Innerchr16:88447049..88447351hg19UCSC Ensembl
Outerchr16:88445351..88449049hg19UCSC Ensembl
chr16:86973852..86975550hg18UCSC Ensembl
Innerchr16:86974852..86974550hg18UCSC Ensembl
Outerchr16:86972852..86976550hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3443468
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690480
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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