A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837653



Internal ID15082147
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 StatusS
Merged Variantsesv3308589
Supporting Variants
SamplesNA19240
Known GenesSLC38A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837653
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer