A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593719



Internal ID6981042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188602137..188692902hg38UCSC Ensembl
chr2:189466864..189557629hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3890766
hg1990766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10793489
SamplesHG03594
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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