A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545839



Internal ID18746915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6210011..6210849hg38UCSC Ensembl
Outerchr10:6209927..6211011hg38UCSC Ensembl
Innerchr10:6251974..6252812hg19UCSC Ensembl
Outerchr10:6251890..6252974hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744586
Samples
Known GenesPFKFB3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545839
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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