A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629501



Internal ID7016322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51271510..51279742hg38UCSC Ensembl
chr12:51665294..51673526hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg388233
hg198233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14480029, essv14480028, essv14480027, essv14480030
SamplesHG03559, HG02231, HG01372, HG03832
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629501
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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