A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592384



Internal ID6632667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128286054..128323303hg38UCSC Ensembl
chr2:129043628..129080877hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3837250
hg1937250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664890
SamplesHG03788
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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