A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563119



Internal ID18764195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193255529..193255585hg38UCSC Ensembl
chr3:192973318..192973374hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761866
Samples
Known GenesHRASLS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563119
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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