A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658648



Internal ID9578067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79908835..79910122hg38UCSC Ensembl
Outerchr12:79908798..79910172hg38UCSC Ensembl
Innerchr12:80302615..80303902hg19UCSC Ensembl
Outerchr12:80302578..80303952hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5456899
SamplesHG00111
Known GenesPPP1R12A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658648
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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