A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5947900



Internal ID8987024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221498888..221501377hg38UCSC Ensembl
chr1:221672230..221674719hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669783
Supporting Variants
SamplesHG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5947900
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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