A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380421



Internal ID14880694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62023591..62023607hg38UCSC Ensembl
Innerchr12:62023584..62023612hg38UCSC Ensembl
Outerchr12:62023568..62023628hg38UCSC Ensembl
chr12:62417372..62417388hg19UCSC Ensembl
Innerchr12:62417365..62417393hg19UCSC Ensembl
Outerchr12:62417349..62417409hg19UCSC Ensembl
chr12:60703639..60703655hg18UCSC Ensembl
Innerchr12:60703660..60703632hg18UCSC Ensembl
Outerchr12:60703616..60703676hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672441, essv8672443
SamplesNA19239, NA19240
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380421
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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