A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7314468



Internal ID10246064
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 StatusS
Merged Variantsesv3044901
Supporting Variants
SamplesHuRef
Known GenesPDE9A
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7314468
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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