A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658799



Internal ID9578218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113883463..113893173hg38UCSC Ensembl
Outerchr12:113883426..113893223hg38UCSC Ensembl
Innerchr12:114321268..114330978hg19UCSC Ensembl
Outerchr12:114321231..114331028hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg389798
hg199798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6326972
SamplesNA18940
Known GenesRBM19
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658799
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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