A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5479499



Internal ID8456902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186071683..186072093hg38UCSC Ensembl
chr3:185789472..185789882hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665875
Supporting Variants
SamplesNA11894
Known GenesETV5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5479499
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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