A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567303



Internal ID18421693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109378684..109378753hg38UCSC Ensembl
chr1:109921306..109921375hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766050
Samples
Known GenesSORT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567303
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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