A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14619051



Internal ID839028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121394752..121396575hg38UCSC Ensembl
Innerchr12:121394752..121396575hg38UCSC Ensembl
Outerchr12:121394464..121396764hg38UCSC Ensembl
chr12:121832555..121834378hg19UCSC Ensembl
Innerchr12:121832555..121834378hg19UCSC Ensembl
Outerchr12:121832267..121834567hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381824
hg191824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630947
Supporting Variants
SamplesHG00436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14619051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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