A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554030



Internal ID18755106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4139007..4139225hg38UCSC Ensembl
Outerchr17:4138956..4139253hg38UCSC Ensembl
Innerchr17:4042301..4042519hg19UCSC Ensembl
Outerchr17:4042250..4042547hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9752777
Samples
Known GenesZZEF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554030
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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