A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662131



Internal ID9581550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71887519..71889539hg38UCSC Ensembl
chr12:72281299..72283319hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6471901
SamplesNA19717
Known GenesTBC1D15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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