A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753449



Internal ID18381009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68887886..68887944hg38UCSC Ensembl
chr17:66884027..66884085hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554702
Supporting Variants
Samples
Known GenesABCA8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753449
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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