A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666167



Internal ID9932272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129503351..129507606hg38UCSC Ensembl
Outerchr12:129503194..129507759hg38UCSC Ensembl
Innerchr12:129987896..129992151hg19UCSC Ensembl
Outerchr12:129987739..129992304hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6458890, essv5677277
SamplesNA19107, NA18871
Known GenesTMEM132D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666167
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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