A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv285e199



Internal ID11592544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43759549..43763635hg38UCSC Ensembl
chr12:44153352..44157438hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384087
hg194087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2672445, esv2669786
SamplesNA18597
Known GenesIRAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv285e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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