A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5411012



Internal ID8388415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4542004..4547210hg38UCSC Ensembl
Outerchr19:4541633..4547580hg38UCSC Ensembl
Innerchr19:4542016..4547222hg19UCSC Ensembl
Outerchr19:4541645..4547592hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658016
Supporting Variants
SamplesHG00626
Known GenesSEMA6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5411012
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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