A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554310



Internal ID18408700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31332656..31332916hg38UCSC Ensembl
Outerchr17:31332563..31332985hg38UCSC Ensembl
Innerchr17:29659674..29659934hg19UCSC Ensembl
Outerchr17:29659581..29660003hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753057
Samples
Known GenesNF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554310
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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