A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631301



Internal ID7018110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132565800..132596262hg38UCSC Ensembl
chr12:133142386..133172848hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3830463
hg1930463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv316e214
Supporting Variantsessv14649565, essv14649567, essv14649569, essv14649566, essv14649571, essv14649572, essv14649573, essv14649570, essv14649564, essv14649568
SamplesNA19443, NA19923, NA19036, HG03202, NA18499, NA19331, NA19334, NA18501, HG03432, HG03063
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631301
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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