A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621446



Internal ID973932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122439713..122457489hg38UCSC Ensembl
Innerchr12:122440213..122456989hg38UCSC Ensembl
Outerchr12:122438713..122458489hg38UCSC Ensembl
chr12:122924260..122942036hg19UCSC Ensembl
Innerchr12:122924760..122941536hg19UCSC Ensembl
Outerchr12:122923260..122943036hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3817777
hg1917777
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630976
Supporting Variants
SamplesHG00599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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