A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557870



Internal ID18758946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46237442..46238498hg38UCSC Ensembl
Outerchr21:46237354..46238764hg38UCSC Ensembl
Innerchr21:47657356..47658412hg19UCSC Ensembl
Outerchr21:47657268..47658678hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756617
Samples
Known GenesMCM3AP, MCM3AP-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557870
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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