A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6296524



Internal ID9273927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23148748..23153604hg38UCSC Ensembl
chr1:23475241..23480097hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384857
hg194857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657917
Supporting Variants
SamplesHG00284
Known GenesLUZP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6296524
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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