A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674409



Internal ID9593828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42117842..42120689hg38UCSC Ensembl
chr22:42513846..42516693hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5855917
SamplesHG01342
Known GenesNDUFA6-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674409
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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