A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593149



Internal ID6980473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161010732..161025922hg38UCSC Ensembl
chr2:161867243..161882433hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3815191
hg1915191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10733904
SamplesHG04162
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593149
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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