A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660448



Internal ID9926553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50983023..50986546hg38UCSC Ensembl
chr12:51376806..51380329hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383524
hg193524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5423037
SamplesHG00151
Known GenesSLC11A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660448
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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