A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628298



Internal ID6668441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1960803..1962620hg38UCSC Ensembl
Innerchr12:1960803..1962620hg38UCSC Ensembl
Outerchr12:1960560..1962855hg38UCSC Ensembl
chr12:2069969..2071786hg19UCSC Ensembl
Innerchr12:2069969..2071786hg19UCSC Ensembl
Outerchr12:2069726..2072021hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381818
hg191818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14336191
SamplesHG01108
Known GenesDCP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628298
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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