A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14522120



Internal ID3482489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70185207..70187575hg38UCSC Ensembl
Innerchr12:70185248..70187535hg38UCSC Ensembl
Outerchr12:70185167..70187616hg38UCSC Ensembl
chr12:70578987..70581355hg19UCSC Ensembl
Innerchr12:70579028..70581315hg19UCSC Ensembl
Outerchr12:70578947..70581396hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382369
hg192369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629881
Supporting Variants
SamplesHG03096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14522120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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