A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5772462



Internal ID8749865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93492487..93523861hg38UCSC Ensembl
Outerchr12:93492450..93523911hg38UCSC Ensembl
Innerchr12:93886263..93917637hg19UCSC Ensembl
Outerchr12:93886226..93917687hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3831462
hg1931462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667704
Supporting Variants
SamplesNA19704
Known GenesMRPL42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5772462
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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