A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545242



Internal ID18399632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104833912..104834725hg38UCSC Ensembl
Outerchr9:104833843..104834881hg38UCSC Ensembl
Innerchr9:107596193..107597006hg19UCSC Ensembl
Outerchr9:107596124..107597162hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743989
Samples
Known GenesABCA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545242
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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