A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554153



Internal ID18755229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12293281..12293577hg38UCSC Ensembl
Outerchr17:12293213..12293644hg38UCSC Ensembl
Innerchr17:12196598..12196894hg19UCSC Ensembl
Outerchr17:12196530..12196961hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752900
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554153
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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