A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302556



Internal ID14802817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32159935..32160000hg38UCSC Ensembl
Innerchr12:32159967..32159967hg38UCSC Ensembl
Outerchr12:32159835..32160100hg38UCSC Ensembl
chr12:32312869..32312934hg19UCSC Ensembl
Innerchr12:32312901..32312901hg19UCSC Ensembl
Outerchr12:32312769..32313034hg19UCSC Ensembl
chr12:32204136..32204201hg18UCSC Ensembl
Innerchr12:32204168..32204168hg18UCSC Ensembl
Outerchr12:32204036..32204301hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731389
SamplesNA12878
Known GenesBICD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302556
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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