A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631330



Internal ID7018139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133154389..133177831hg38UCSC Ensembl
chr12:133730975..133754417hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3823443
hg1923443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14650398, essv14650396, essv14650397
SamplesNA20532, NA19238, HG00108
Known GenesZNF10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631330
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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