A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568055



Internal ID6692751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45146052..45146130hg38UCSC Ensembl
chr21:46565967..46566045hg19UCSC Ensembl
chr21:45390395..45390473hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998882
Supporting Variants
SamplesHuRef
Known GenesADARB1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568055
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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