A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14484258



Internal ID1885787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54596214..54602337hg38UCSC Ensembl
Innerchr12:54596255..54602297hg38UCSC Ensembl
Outerchr12:54596174..54602378hg38UCSC Ensembl
chr12:54989998..54996121hg19UCSC Ensembl
Innerchr12:54990039..54996081hg19UCSC Ensembl
Outerchr12:54989958..54996162hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386124
hg196124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629555
Supporting Variants
SamplesHG01776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14484258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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