A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5821708



Internal ID8799111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41754765..41757668hg38UCSC Ensembl
chr5:41754867..41757770hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382904
hg192904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674809
Supporting Variants
SamplesNA19466
Known GenesOXCT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5821708
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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