A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630125



Internal ID7016945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81016661..81044834hg38UCSC Ensembl
Innerchr12:81016661..81044834hg38UCSC Ensembl
Outerchr12:81016161..81045334hg38UCSC Ensembl
chr12:81410440..81438613hg19UCSC Ensembl
Innerchr12:81410440..81438613hg19UCSC Ensembl
Outerchr12:81409940..81439113hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3828174
hg1928174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14549873, essv14549874
SamplesHG02537, HG01617
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630125
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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