A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1118e199



Internal ID22758891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55606319..55612805hg38UCSC Ensembl
chr6:55471117..55477603hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg386487
hg196487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2675273, esv2672228
SamplesHG01051
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1118e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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