A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15569839



Internal ID5571655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89532694..89597465hg38UCSC Ensembl
chr16:89599102..89663873hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3864772
hg1964772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639587
Supporting Variants
SamplesHG00266
Known GenesCPNE7, RPL13, SNORD68, SPG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15569839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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