A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv309e199



Internal ID22758082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103445312..103454697hg38UCSC Ensembl
chr12:103839090..103848475hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389386
hg199386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665947, esv2659796, esv2671232
SamplesNA18606, NA18498, NA19384, NA19451, NA19114, NA18505
Known GenesC12orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv309e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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