A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5556373



Internal ID9301140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189735377..189814229hg38UCSC Ensembl
Innerchr1:189704507..189783359hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3878853
hg1978853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663506
Supporting Variants
SamplesNA12892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5556373
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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