A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571293



Internal ID4573109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93492467..93523879hg38UCSC Ensembl
Innerchr12:93492526..93523821hg38UCSC Ensembl
Outerchr12:93492409..93523938hg38UCSC Ensembl
chr12:93886243..93917655hg19UCSC Ensembl
Innerchr12:93886302..93917597hg19UCSC Ensembl
Outerchr12:93886185..93917714hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3831413
hg1931413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630400
Supporting Variants
SamplesNA19704
Known GenesMRPL42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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