A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678107



Internal ID9944212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43044780..43051750hg38UCSC Ensembl
chr12:43438583..43445553hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386971
hg196971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6349730
SamplesHG00189
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678107
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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