A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592015



Internal ID6979342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113232678..113383973hg38UCSC Ensembl
chr2:113990255..114141550hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38151296
hg19151296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10628760
SamplesHG03644
Known GenesPAX8, PAX8-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592015
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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