A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5676446



Internal ID8653849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211482088..211483376hg38UCSC Ensembl
chr1:211655430..211656718hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675306
Supporting Variants
SamplesNA19904
Known GenesRD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5676446
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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