A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561890



Internal ID18762966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994485..53004198hg38UCSC Ensembl
Outerchr3:52991985..53006515hg38UCSC Ensembl
Innerchr3:53028501..53038214hg19UCSC Ensembl
Outerchr3:53026001..53040531hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3814531
hg1914531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760637
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561890
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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