A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554625



Internal ID18409015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61267198..61267279hg38UCSC Ensembl
chr17:59344559..59344640hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753372
Samples
Known GenesBCAS3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554625
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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