A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561910



Internal ID18762986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54921892..54921953hg38UCSC Ensembl
chr3:54955919..54955980hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760657
Samples
Known GenesCACNA2D3, LRTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561910
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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