A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554459



Internal ID18755535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44778683..44778739hg38UCSC Ensembl
chr17:42856051..42856107hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753206
Samples
Known GenesADAM11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554459
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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