A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760657



Internal ID18734903
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 StatusS
Merged Variantsesv3561910
Supporting Variants
Samples
Known GenesCACNA2D3, LRTM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760657
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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