A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669682



Internal ID9935787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20919866..20920027hg38UCSC Ensembl
chr1:21246359..21246520hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5988728, essv5924971, essv5778335, essv6064844
SamplesHG00318, HG00323, HG00284, HG00136
Known GenesEIF4G3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669682
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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