A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543283



Internal ID18744359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29011702..29011774hg38UCSC Ensembl
chr8:28869219..28869291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742030
Samples
Known GenesHMBOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543283
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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