A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544833



Internal ID18745909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198404737..198404803hg38UCSC Ensembl
chr1:198373867..198373933hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743580
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544833
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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