A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690512



Internal ID13705488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90224043..90228341hg38UCSC Ensembl
Innerchr16:90225043..90227341hg38UCSC Ensembl
Outerchr16:90223043..90228345hg38UCSC Ensembl
chr16:90290451..90294749hg19UCSC Ensembl
Innerchr16:90291451..90293749hg19UCSC Ensembl
Outerchr16:90289451..90294753hg19UCSC Ensembl
chr16:88817952..88822250hg18UCSC Ensembl
Innerchr16:88818952..88821250hg18UCSC Ensembl
Outerchr16:88816952..88823250hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384299
hg194299
hg184299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3336971
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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