A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550361



Internal ID18751437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40768342..40768421hg38UCSC Ensembl
chr13:41342478..41342557hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749108
Samples
Known GenesMRPS31
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550361
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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