A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539756



Internal ID18740872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113497298..113503255hg38UCSC Ensembl
Outerchr1:113497137..113503496hg38UCSC Ensembl
Innerchr1:114039920..114045877hg19UCSC Ensembl
Outerchr1:114039759..114046118hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386360
hg196360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738503
Samples
Known GenesMAGI3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539756
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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