A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5960075



Internal ID9124151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21977171..22001806hg38UCSC Ensembl
chr1:22303664..22328299hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3824636
hg1924636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672264
Supporting Variants
SamplesHG01137
Known GenesCELA3A, CELA3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5960075
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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