A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631335



Internal ID6671462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133215743..133242775hg38UCSC Ensembl
chr12:133792329..133819361hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827033
hg1927033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14650411
SamplesNA19238
Known GenesANHX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631335
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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