A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563069



Internal ID18417459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645925..189652711hg38UCSC Ensembl
Outerchr3:189644712..189653958hg38UCSC Ensembl
Innerchr3:189363714..189370500hg19UCSC Ensembl
Outerchr3:189362501..189371747hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg389247
hg199247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761816
Samples
Known GenesTP63
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563069
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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