A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662179



Internal ID9581598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:288332..289180hg38UCSC Ensembl
chr3:330015..330863hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6149570, essv5763512, essv5407824, essv6296667
SamplesNA19311, NA19390, NA19700, NA19399
Known GenesCHL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662179
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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