A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556022



Internal ID18410412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46085594..46085804hg38UCSC Ensembl
Outerchr2:46085541..46085825hg38UCSC Ensembl
Innerchr2:46312733..46312943hg19UCSC Ensembl
Outerchr2:46312680..46312964hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754769
Samples
Known GenesPRKCE
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556022
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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