A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628289



Internal ID7015113
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14334657, essv14334656
SamplesHG00308, HG00446
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628289
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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