A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609042



Internal ID4873690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114939663..114942687hg38UCSC Ensembl
Innerchr12:114939663..114942687hg38UCSC Ensembl
Outerchr12:114939577..114942790hg38UCSC Ensembl
chr12:115377468..115380492hg19UCSC Ensembl
Innerchr12:115377468..115380492hg19UCSC Ensembl
Outerchr12:115377382..115380595hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383025
hg193025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630824
Supporting Variants
SamplesNA12342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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