A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547133



Internal ID18748209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:221860818..221861112hg38UCSC Ensembl
Outerchr1:221860744..221861180hg38UCSC Ensembl
Innerchr1:222034160..222034454hg19UCSC Ensembl
Outerchr1:222034086..222034522hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745880
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547133
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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