A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539743



Internal ID18740859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53362624..53362727hg38UCSC Ensembl
chr6:53227422..53227525hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738490
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539743
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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