A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5508104



Internal ID8485507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26931398..26934225hg38UCSC Ensembl
chr12:27084331..27087158hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg382828
hg192828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674002
Supporting Variants
SamplesNA19470
Known GenesASUN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5508104
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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