A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3044901



Internal ID10717881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42715445..42719680hg38UCSC Ensembl
Outerchr21:44135555..44139790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7314468
SamplesHuRef
Known GenesPDE9A
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3044901
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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