A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14565604



Internal ID2701199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89221731..89225703hg38UCSC Ensembl
Innerchr12:89221759..89225676hg38UCSC Ensembl
Outerchr12:89221704..89225731hg38UCSC Ensembl
chr12:89615508..89619480hg19UCSC Ensembl
Innerchr12:89615536..89619453hg19UCSC Ensembl
Outerchr12:89615481..89619508hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630313
Supporting Variants
SamplesHG02386
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14565604
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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