A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551433



Internal ID18752509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:2716663..2716755hg38UCSC Ensembl
Outerchr2:2716640..2716781hg38UCSC Ensembl
Innerchr2:2720435..2720527hg19UCSC Ensembl
Outerchr2:2720412..2720553hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750180
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551433
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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