A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544876



Internal ID18399266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69123831..69128020hg38UCSC Ensembl
Outerchr9:69123130..69128584hg38UCSC Ensembl
Innerchr9:71738747..71742936hg19UCSC Ensembl
Outerchr9:71738046..71743500hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385455
hg195455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv486e215
Supporting Variantsessv9743623
Samples
Known GenesTJP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544876
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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