A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5905068



Internal ID8882471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26599889..26600221hg38UCSC Ensembl
chr2:26822757..26823089hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663963
Supporting Variants
SamplesHG00336
Known GenesCIB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5905068
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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