A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674403



Internal ID9940508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3461663..3463037hg38UCSC Ensembl
chr12:3570829..3572203hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395682, essv6162935, essv5902706, essv5940466, essv6429971
SamplesNA19457, NA19471, NA19449, NA19099, NA19257
Known GenesPRMT8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674403
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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