A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5397213



Internal ID8374616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30972302..31031402hg38UCSC Ensembl
chr6:30940079..30999179hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3859101
hg1959101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677358
Supporting Variants
SamplesNA18986
Known GenesMUC21, MUC22
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5397213
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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