A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669568



Internal ID9935673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50884218..50886178hg38UCSC Ensembl
Outerchr12:50884181..50886228hg38UCSC Ensembl
Innerchr12:51278001..51279961hg19UCSC Ensembl
Outerchr12:51277964..51280011hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5659697
SamplesNA20530
Known GenesTMPRSS12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669568
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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