A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629549



Internal ID6669688
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14484201
SamplesHG03103
Known GenesSMUG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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