A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15547048



Internal ID6944276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84569436..84600799hg38UCSC Ensembl
chr16:84603042..84634405hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3831364
hg1931364
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639438
Supporting Variants
SamplesNA21127
Known GenesCOTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15547048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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