A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418178



Internal ID14918450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32159947..32160010hg38UCSC Ensembl
Innerchr12:32159956..32159998hg38UCSC Ensembl
Outerchr12:32159935..32160019hg38UCSC Ensembl
chr12:32312881..32312944hg19UCSC Ensembl
Innerchr12:32312890..32312932hg19UCSC Ensembl
Outerchr12:32312869..32312953hg19UCSC Ensembl
chr12:32204148..32204211hg18UCSC Ensembl
Innerchr12:32204157..32204199hg18UCSC Ensembl
Outerchr12:32204136..32204220hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670556
SamplesNA12878
Known GenesBICD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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