A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5478181



Internal ID8455585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3868272..3868500hg38UCSC Ensembl
chr16:3918273..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656605
Supporting Variants
SamplesNA18999
Known GenesCREBBP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5478181
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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