A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv258e214



Internal ID20121681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20486074..20517651hg38UCSC Ensembl
chr12:20639008..20670585hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3831578
hg1931578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628784, esv3628785
SamplesNA18977, NA19009, HG01985
Known GenesPDE3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv258e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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