A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6105114



Internal ID8994100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224376097..224378144hg38UCSC Ensembl
chr2:225240814..225242861hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674413
Supporting Variants
SamplesHG00590
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6105114
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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