A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628791



Internal ID6668933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20817504..20879373hg38UCSC Ensembl
Innerchr12:20818004..20878873hg38UCSC Ensembl
Outerchr12:20816504..20880373hg38UCSC Ensembl
chr12:20970438..21032307hg19UCSC Ensembl
Innerchr12:20970938..21031807hg19UCSC Ensembl
Outerchr12:20969438..21033307hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3861870
hg1961870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv259e214
Supporting Variantsessv14405604
SamplesHG00759
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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