A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539757



Internal ID18740873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54851945..54852086hg38UCSC Ensembl
chr6:54716743..54716884hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738504
Samples
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539757
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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