A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv321e199



Internal ID22758094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121675152..121691738hg38UCSC Ensembl
chr12:122113058..122129644hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816587
hg1916587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2671447, esv2658911
SamplesHG00449, NA18961, NA19074
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv321e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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