A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629876



Internal ID7016697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69986277..70012554hg38UCSC Ensembl
Innerchr12:69986277..70012554hg38UCSC Ensembl
Outerchr12:69985777..70013054hg38UCSC Ensembl
chr12:70380057..70406334hg19UCSC Ensembl
Innerchr12:70380057..70406334hg19UCSC Ensembl
Outerchr12:70379557..70406834hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3826278
hg1926278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14522099
SamplesHG03765
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629876
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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