A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309227



Internal ID14809490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59724999..59725000hg38UCSC Ensembl
Innerchr12:59724982..59725017hg38UCSC Ensembl
Outerchr12:59724981..59725018hg38UCSC Ensembl
chr12:60118780..60118781hg19UCSC Ensembl
Innerchr12:60118763..60118798hg19UCSC Ensembl
Outerchr12:60118762..60118799hg19UCSC Ensembl
chr12:58405047..58405048hg18UCSC Ensembl
Innerchr12:58405065..58405030hg18UCSC Ensembl
Outerchr12:58405029..58405066hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842365, essv7841980
SamplesNA19238, NA19240
Known GenesSLC16A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309227
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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