A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv306e214



Internal ID22756200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112678641..112696667hg38UCSC Ensembl
chr12:113116446..113134472hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3818027
hg1918027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630783, esv3630782
SamplesHG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv306e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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