A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557771



Internal ID18412161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42715681..42718890hg38UCSC Ensembl
Outerchr21:42715357..42719701hg38UCSC Ensembl
Innerchr21:44135791..44139000hg19UCSC Ensembl
Outerchr21:44135467..44139811hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv278e215
Supporting Variantsessv9756518
Samples
Known GenesPDE9A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557771
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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