A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433035



Internal ID15279991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27050012..27050012hg38UCSC Ensembl
Innerchr12:27050011..27050013hg38UCSC Ensembl
Outerchr12:27049962..27050062hg38UCSC Ensembl
chr12:27202945..27202945hg19UCSC Ensembl
Innerchr12:27202944..27202946hg19UCSC Ensembl
Outerchr12:27202895..27202995hg19UCSC Ensembl
chr12:27094212..27094212hg18UCSC Ensembl
Innerchr12:27094213..27094211hg18UCSC Ensembl
Outerchr12:27094162..27094262hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38423
hg19423
hg18423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740750
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433035
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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