A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539751



Internal ID18394141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54310658..54310723hg38UCSC Ensembl
chr6:54175456..54175521hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738498
Samples
Known GenesTINAG
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539751
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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