A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628221



Internal ID6668364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114421..232803hg38UCSC Ensembl
chr12:223587..341969hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38118383
hg19118383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329461
SamplesHG00593
Known GenesIQSEC3, LOC574538, SLC6A12, SLC6A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628221
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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