A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14456432



Internal ID5982228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41131722..41148076hg38UCSC Ensembl
Innerchr12:41131722..41148076hg38UCSC Ensembl
Outerchr12:41131651..41148147hg38UCSC Ensembl
chr12:41525524..41541878hg19UCSC Ensembl
Innerchr12:41525524..41541878hg19UCSC Ensembl
Outerchr12:41525453..41541949hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3816355
hg1916355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629306
Supporting Variants
SamplesNA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14456432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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