A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631315



Internal ID6671442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132764786..132771466hg38UCSC Ensembl
chr12:133341372..133348052hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg386681
hg196681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649901
SamplesHG04131
Known GenesGOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631315
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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