A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631017



Internal ID7017831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124572755..124632895hg38UCSC Ensembl
chr12:125057301..125117441hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860141
hg1960141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14623633
SamplesNA20529
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631017
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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