A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631288



Internal ID6671415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132190709..132205907hg38UCSC Ensembl
chr12:132675254..132690452hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3815199
hg1915199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14646876
SamplesHG03947
Known GenesGALNT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631288
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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