A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14484201



Internal ID4486018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54186719..54188118hg38UCSC Ensembl
Innerchr12:54186719..54188118hg38UCSC Ensembl
Outerchr12:54186669..54188166hg38UCSC Ensembl
chr12:54580503..54581902hg19UCSC Ensembl
Innerchr12:54580503..54581902hg19UCSC Ensembl
Outerchr12:54580453..54581950hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629549
Supporting Variants
SamplesHG03103
Known GenesSMUG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14484201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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