A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629603



Internal ID7016424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56864458..56883602hg38UCSC Ensembl
chr12:57258242..57277386hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3819145
hg1919145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14486745
SamplesHG01610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629603
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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