A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594442



Internal ID6981762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223216313..223220367hg38UCSC Ensembl
chr2:224081031..224085085hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384055
hg194055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10864582
SamplesNA20785
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594442
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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