A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587070



Internal ID6974497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:105469653..105692491hg38UCSC Ensembl
chr1:106012275..106235113hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38222839
hg19222839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10047989
SamplesHG02394
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587070
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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