A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630093



Internal ID6670231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79892650..79918166hg38UCSC Ensembl
chr12:80286430..80311946hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3825517
hg1925517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv288e214
Supporting Variantsessv14547263
SamplesNA19315
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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