A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308589



Internal ID15155538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46254294..46254295hg38UCSC Ensembl
Innerchr12:46254250..46254339hg38UCSC Ensembl
Outerchr12:46254249..46254340hg38UCSC Ensembl
chr12:46648077..46648078hg19UCSC Ensembl
Innerchr12:46648033..46648122hg19UCSC Ensembl
Outerchr12:46648032..46648123hg19UCSC Ensembl
chr12:44934344..44934345hg18UCSC Ensembl
Innerchr12:44934389..44934300hg18UCSC Ensembl
Outerchr12:44934299..44934390hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837653, essv7836693, essv7838327
SamplesNA12891, NA19239, NA19240
Known GenesSLC38A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308589
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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