A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631198



Internal ID7018010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130089227..130109060hg38UCSC Ensembl
chr12:130573772..130593605hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3819834
hg1919834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14637206, essv14637205
SamplesNA19451, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631198
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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