A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565848



Internal ID18420238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92770555..92772360hg38UCSC Ensembl
Outerchr1:92770500..92772434hg38UCSC Ensembl
Innerchr1:93236112..93237917hg19UCSC Ensembl
Outerchr1:93236057..93237991hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764595
Samples
Known GenesEVI5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565848
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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