A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554253



Internal ID18408643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21027255..21027335hg38UCSC Ensembl
chr17:20930568..20930648hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753000
Samples
Known GenesUSP22
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554253
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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