A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629050



Internal ID6669190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31639465..31647416hg38UCSC Ensembl
chr12:31792399..31800350hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387952
hg197952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14434123
SamplesNA12155
Known GenesMETTL20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629050
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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