A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557772



Internal ID18412162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42716066..42719698hg38UCSC Ensembl
Outerchr21:42715391..42719890hg38UCSC Ensembl
Innerchr21:44136176..44139808hg19UCSC Ensembl
Outerchr21:44135501..44140000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv278e215
Supporting Variantsessv9756519
Samples
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557772
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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