A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554136



Internal ID18755212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:11291225..11292885hg38UCSC Ensembl
Outerchr17:11291217..11293031hg38UCSC Ensembl
Innerchr17:11194542..11196202hg19UCSC Ensembl
Outerchr17:11194534..11196348hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381815
hg191815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752883
Samples
Known GenesSHISA6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554136
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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