A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659248



Internal ID9925353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20732139..20732815hg38UCSC Ensembl
Outerchr12:20732102..20732865hg38UCSC Ensembl
Innerchr12:20885073..20885749hg19UCSC Ensembl
Outerchr12:20885036..20885799hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5777449
SamplesNA18566
Known GenesSLCO1C1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659248
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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