A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6100188



Internal ID9077591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24115214..24115501hg38UCSC Ensembl
chr16:24126535..24126822hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659883
Supporting Variants
SamplesHG00177
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6100188
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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