A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563095



Internal ID18417485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191347212..191353155hg38UCSC Ensembl
Outerchr3:191346212..191354211hg38UCSC Ensembl
Innerchr3:191065001..191070944hg19UCSC Ensembl
Outerchr3:191064001..191072000hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761842
Samples
Known GenesCCDC50
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563095
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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