A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv312e214



Internal ID22756206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128739876..128789788hg38UCSC Ensembl
chr12:129224421..129274333hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3849913
hg1949913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631148, esv3631147
SamplesNA12400, NA20515, NA20535, HG02322, HG01894, HG00623, HG01357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv312e214
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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