A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6173388



Internal ID9086892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79491456..79493921hg38UCSC Ensembl
chr12:79885236..79887701hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382466
hg192466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672882
Supporting Variants
SamplesHG01067
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6173388
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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