A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv109n73



Internal ID22782715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222895471..222897982hg38UCSC Ensembl
chr2:223760189..223762700hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv953188, nsv954168
SamplesBILGI_BIOE
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)dgv109n73
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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