A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592179



Internal ID6979506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120483149..120712950hg38UCSC Ensembl
chr2:121240725..121470526hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38229802
hg19229802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10641132
SamplesHG03645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592179
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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