A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5976940



Internal ID9452020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72955936..73033578hg38UCSC Ensembl
Outerchr12:72955899..73033628hg38UCSC Ensembl
Innerchr12:73349716..73427358hg19UCSC Ensembl
Outerchr12:73349679..73427408hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3877730
hg1977730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656769
Supporting Variants
SamplesNA18871
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5976940
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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