A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631290



Internal ID6671417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132288510..132297698hg38UCSC Ensembl
chr12:132865096..132874284hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg389189
hg199189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649061, essv14649060
SamplesHG02060, HG02277
Known GenesGALNT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631290
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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