A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554155



Internal ID18755231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:12449969..12455849hg38UCSC Ensembl
Outerchr17:12449724..12456061hg38UCSC Ensembl
Innerchr17:12353286..12359166hg19UCSC Ensembl
Outerchr17:12353041..12359378hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386338
hg196338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752902
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554155
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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