A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666827



Internal ID2899914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20864207..20883816hg38UCSC Ensembl
Outerchr12:20864170..20883866hg38UCSC Ensembl
Innerchr12:21017141..21036750hg19UCSC Ensembl
Outerchr12:21017104..21036800hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3819697
hg1919697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6259370
SamplesNA12399
Known GenesSLCO1B3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666827
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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