A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14334656



Internal ID662011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1656513..1658366hg38UCSC Ensembl
Innerchr12:1656545..1658334hg38UCSC Ensembl
Outerchr12:1656481..1658398hg38UCSC Ensembl
chr12:1765679..1767532hg19UCSC Ensembl
Innerchr12:1765711..1767500hg19UCSC Ensembl
Outerchr12:1765647..1767564hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381854
hg191854
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628289
Supporting Variants
SamplesHG00308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14334656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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