A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753185



Internal ID18727431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42332390..42332674hg38UCSC Ensembl
Outerchr17:42332355..42332695hg38UCSC Ensembl
Innerchr17:40484408..40484692hg19UCSC Ensembl
Outerchr17:40484373..40484713hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554438
Supporting Variants
Samples
Known GenesSTAT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753185
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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