A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv318e214



Internal ID20121741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132801812..132847948hg38UCSC Ensembl
chr12:133378398..133424534hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846137
hg1946137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631319, esv3631318
SamplesNA19917, NA20503
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv318e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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