A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14611004



Internal ID2219298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116396358..116423251hg38UCSC Ensembl
Innerchr12:116396358..116423251hg38UCSC Ensembl
Outerchr12:116395858..116423751hg38UCSC Ensembl
chr12:116834163..116861056hg19UCSC Ensembl
Innerchr12:116834163..116861056hg19UCSC Ensembl
Outerchr12:116833663..116861556hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3826894
hg1926894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630850
Supporting Variants
SamplesHG01991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14611004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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