A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592262



Internal ID6979589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123307981..123479970hg38UCSC Ensembl
chr2:124065557..124237546hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38171990
hg19171990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10653543, essv10653542
SamplesHG02888, HG03045
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592262
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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