A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557966



Internal ID18759042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66278465..66280389hg38UCSC Ensembl
Outerchr2:66278324..66280474hg38UCSC Ensembl
Innerchr2:66505597..66507521hg19UCSC Ensembl
Outerchr2:66505456..66507606hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382151
hg192151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756713
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557966
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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