A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308888



Internal ID15155837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51247056..51247057hg38UCSC Ensembl
Innerchr12:51247038..51247075hg38UCSC Ensembl
Outerchr12:51247037..51247076hg38UCSC Ensembl
chr12:51640840..51640841hg19UCSC Ensembl
Innerchr12:51640822..51640859hg19UCSC Ensembl
Outerchr12:51640821..51640860hg19UCSC Ensembl
chr12:49927107..49927108hg18UCSC Ensembl
Innerchr12:49927126..49927089hg18UCSC Ensembl
Outerchr12:49927088..49927127hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843080, essv7841761
SamplesNA19239, NA19240
Known GenesSMAGP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308888
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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