A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560327



Internal ID18761403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30997886..30997966hg38UCSC Ensembl
chr1:31470733..31470813hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759074
Samples
Known GenesPUM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560327
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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