A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994385



Internal ID7079035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44197736..44203695hg38UCSC Ensembl
Outerchr21:45617619..45623578hg19UCSC Ensembl
Outerchr21:44442047..44448006hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385960
hg195960
hg185960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565447
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994385
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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