A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631292



Internal ID6671419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132309887..132321578hg38UCSC Ensembl
chr12:132886473..132898164hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3811692
hg1911692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649064, essv14649065
SamplesHG00628, NA12272
Known GenesGALNT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631292
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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