A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv290e214



Internal ID22756184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83632496..83870824hg38UCSC Ensembl
chr12:84026275..84264603hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38238329
hg19238329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630186, esv3630187
SamplesNA12058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv290e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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