A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545405



Internal ID18399795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:120494761..120497188hg38UCSC Ensembl
Outerchr9:120494693..120497535hg38UCSC Ensembl
Innerchr9:123257039..123259466hg19UCSC Ensembl
Outerchr9:123256971..123259813hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382843
hg192843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744152
Samples
Known GenesCDK5RAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545405
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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