A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5878341



Internal ID8856635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501027..93501903hg38UCSC Ensembl
chr12:93894803..93895679hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658394
Supporting Variants
SamplesHG00311
Known GenesMRPL42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5878341
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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