A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5444675



Internal ID8422078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010225..89012941hg38UCSC Ensembl
chr1:89475908..89478624hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382717
hg192717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667765
Supporting Variants
SamplesNA19470
Known GenesGBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5444675
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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