A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592389



Internal ID6979716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128482852..128567933hg38UCSC Ensembl
chr2:129240426..129325507hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3885082
hg1985082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10665115, essv10665116
SamplesHG03788, HG01921
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592389
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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